{ "url": "https://dantelabs.com/ko/genes/tmem237", "gene": { "slug": "tmem237", "symbol": "TMEM237", "name": "transmembrane protein 237", "hgnc": "HGNC:14432", "summary": null, "location": "2q33.1", "locusType": "gene with protein product", "aliases": [ "JBTS14" ], "previousSymbols": [ "ALS2CR4" ], "ensemblId": "ENSG00000155755", "entrezId": 65062, "omim": [ "614423" ], "uniprot": [ "Q96Q45" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 201620186, "end": 201643503, "strand": "-", "ensemblTranscript": "ENST00000409883.7", "refseqTranscript": "NM_001044385.3", "ensemblProtein": "ENSP00000386264.2", "refseqProtein": "NP_001037850.1", "exons": [ { "start": 201620186, "end": 201624322 }, { "start": 201626026, "end": 201626147 }, { "start": 201627321, "end": 201627414 }, { "start": 201628076, "end": 201628149 }, { "start": 201629230, "end": 201629421 }, { "start": 201629729, "end": 201629852 }, { "start": 201632051, "end": 201632208 }, { "start": 201633311, "end": 201633431 }, { "start": 201636748, "end": 201636885 }, { "start": 201638989, "end": 201639045 }, { "start": 201640261, "end": 201640265 }, { "start": 201640893, "end": 201640924 }, { "start": 201643359, "end": 201643503 } ], "cds": { "start": 201624255, "end": 201643400 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 202484907, "end": 202508293, "strand": "-" }, "neighbourhood": { "release": "116", "start": 201131845, "end": 202131844, "genes": [ { "symbol": "CFLAR", "ensemblId": "ENSG00000003402", "biotype": "protein_coding", "start": 201116005, "end": 201176687, "strand": "+", "slug": "cflar" }, { "symbol": "CASP10", "ensemblId": "ENSG00000003400", "biotype": "protein_coding", "start": 201182693, "end": 201229428, "strand": "+", "slug": "casp10" }, { "symbol": "CASP8", "ensemblId": "ENSG00000064012", "biotype": "protein_coding", "start": 201233443, "end": 201361836, "strand": "+", "slug": "casp8" }, { "symbol": "FLACC1", "ensemblId": "ENSG00000155749", "biotype": "protein_coding", "start": 201287397, "end": 201357398, "strand": "-", "slug": "flacc1" }, { "symbol": "TRAK2", "ensemblId": "ENSG00000115993", "biotype": "protein_coding", "start": 201377207, "end": 201453449, "strand": "-", "slug": "trak2" }, { "symbol": "STRADB", "ensemblId": "ENSG00000082146", "biotype": "protein_coding", "start": 201387858, "end": 201502687, "strand": "+", "slug": "stradb" }, { "symbol": "CATSPERT", "ensemblId": "ENSG00000155754", "biotype": "protein_coding", "start": 201487421, "end": 201619179, "strand": "-", "slug": "catspert" }, { "symbol": "MPP4", "ensemblId": "ENSG00000082126", "biotype": "protein_coding", "start": 201644870, "end": 201698713, "strand": "-", "slug": "mpp4" }, { "symbol": "ALS2", "ensemblId": "ENSG00000003393", "biotype": "protein_coding", "start": 201700267, "end": 201782112, "strand": "-", "slug": "als2" }, { "symbol": "CDK15", "ensemblId": "ENSG00000138395", "biotype": "protein_coding", "start": 201790461, "end": 201895550, "strand": "+", "slug": "cdk15" }, { "symbol": "FZD7", "ensemblId": "ENSG00000155760", "biotype": "protein_coding", "start": 202033855, "end": 202038441, "strand": "+", "slug": "fzd7" }, { "symbol": "KIAA2012", "ensemblId": "ENSG00000182329", "biotype": "protein_coding", "start": 202073250, "end": 202206179, "strand": "+", "slug": "kiaa2012" } ], "truncated": false }, "reports": [ { "slug": "joubert-syndrome-and-related-disorders", "name": "Joubert 증후군 및 관련 질환", "diseases": [ { "mondoId": "MONDO:0015369", "name": "Joubert 증후군 및 관련 질환", "genes": 12, "inheritance": "autosomal-recessive", "description": "Joubert 증후군(JS) 및 관련 질환(JSRD)은 발달 지연 또는 여러 선천성 기형을 동반하는 증후군군으로, 필수적인 특징은 뇌 영상에서 식별되는 복합적인 중뇌-뇌교 기형인 \"molar tooth sign''(MTS, 어금니 징후)입니다. MTS는 소뇌 충부(cerebellar vermis)의 저형성, 상소뇌각(superior cerebellar peduncle)의 비후 및 잘못된 방향 배열, 그리고 비정상적으로 깊은 각간 궁(interpeduncular fossa)을 특징으로 합니다.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0018772", "name": "Joubert 증후군", "genes": 37, "inheritance": null, "description": "소뇌와 뇌간의 기형(어금니 징후, molar tooth sign)을 특징으로 하는 섬모병증으로, 근긴장도 저하, 발달 지연, 비정상적인 안구 운동이 나타나며 때때로 신장, 간 또는 눈의 침범을 동반합니다.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/joubert-syndrome-and-related-disorders" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "常染色体隐性小脑共济失调(包括CANVAS和AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "상염색체 열성 소뇌성 운동실조증", "genes": 57, "inheritance": "autosomal-recessive", "description": "RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10, SYNE1 등의 유전자에서 두 개의 대립유전자에 변이가 있을 때 발생하는 열성 유전 운동실조증 그룹입니다.", "management": "비타민 E 결핍 운동실조증(TTPA)은 비타민 E 보충제로 치료할 수 있습니다. 그 밖의 유형은 물리치료와 증상 관리를 통해 관리하며, 가족에게는 보인자 검사를 권해드릴 수 있습니다.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-chorioretinal-morphology", "name": "Abnormal chorioretinal morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pattern-of-respiration", "name": "Abnormal pattern of respiration", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "abnormality-of-the-hypothalamus-pituitary-axis", "name": "Abnormality of the hypothalamus-pituitary axis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anophthalmia", "name": "Absence of eyeballs", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anophthalmia" }, { "slug": "asplenia", "name": "Absent spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asplenia" }, { "slug": "aplasia-hypoplasia-of-the-iris", "name": "Absent/small iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris" }, { "slug": "accessory-spleen", "name": "Accessory spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/accessory-spleen" }, { "slug": "agenesis-of-cerebellar-vermis", "name": "Agenesis of cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-cerebellar-vermis" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "anencephaly", "name": "Anencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anencephaly" }, { "slug": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "aplasia-hypoplasia-of-the-tongue", "name": "Aplasia/Hypoplasia of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-tongue" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "chorioretinal-coloboma", "name": "Birth defect that causes a hole in the innermost layer at the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorioretinal-coloboma" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "retinal-dystrophy", "name": "Breakdown of light-sensitive cells in back of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinal-dystrophy" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "microcornea", "name": "Cornea of eye less than 10mm in diameter", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcornea" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "cystic-liver-disease", "name": "Cystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cystic-liver-disease" }, { "slug": "dandy-walker-malformation", "name": "Dandy-Walker malformation", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dandy-walker-malformation" }, { "slug": "biparietal-narrowing", "name": "Decreased width of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/biparietal-narrowing" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "ureteral-duplication", "name": "Double ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ureteral-duplication" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "foot-polydactyly", "name": "Duplication of bones of the toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-polydactyly" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-tachypnea", "name": "Episodic tachypnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/episodic-tachypnea" }, { "slug": "congenital-hepatic-fibrosis", "name": "Excessive buildup of connective tissue and scarring of liver at birth", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis" }, { "slug": "hand-polydactyly", "name": "Extra finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-polydactyly" }, { "slug": "postaxial-hand-polydactyly", "name": "Extra little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly" }, { "slug": "preaxial-hand-polydactyly", "name": "Extra thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly" }, { "slug": "postaxial-foot-polydactyly", "name": "Extra toe attached near the little toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "furrowed-tongue", "name": "Grooved tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/furrowed-tongue" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "sclerocornea", "name": "Hardening of skin and connective tissue", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sclerocornea" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "tachypnea", "name": "Increased respiratory rate or depth of breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tachypnea" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/irritability" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "lobar-holoprosencephaly", "name": "Lobar holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lobar-holoprosencephaly" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "male-pseudohermaphroditism", "name": "Male pseudohermaphroditism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/male-pseudohermaphroditism" }, { "slug": "meningocele", "name": "Meningocele", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningocele" }, { "slug": "molar-tooth-sign-on-mri", "name": "Molar tooth sign on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/molar-tooth-sign-on-mri" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "morning-glory-anomaly", "name": "Morning glory anomaly", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/morning-glory-anomaly" }, { "slug": "multicystic-kidney-dysplasia", "name": "Multicystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "coloboma", "name": "Notched pupil", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coloboma" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "pancreatic-cysts", "name": "Pancreatic cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-cysts" }, { "slug": "pancreatic-fibrosis", "name": "Pancreatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-fibrosis" }, { "slug": "postaxial-polydactyly", "name": "Postaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postaxial-polydactyly" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "hypoplasia-of-the-brainstem", "name": "Small brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem" }, { "slug": "talipes", "name": "Talipes", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "true-hermaphroditism", "name": "True hermaphroditism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/true-hermaphroditism" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "urethral-atresia", "name": "Urethral atresia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urethral-atresia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 3, "url": "https://dantelabs.com/ko/genes/ahi1" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 3, "url": "https://dantelabs.com/ko/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 3, "url": "https://dantelabs.com/ko/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 3, "url": "https://dantelabs.com/ko/genes/cep41" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 3, "url": "https://dantelabs.com/ko/genes/cspp1" }, { "slug": "kiaa0586", "symbol": "KIAA0586", "name": "KIAA0586", "shared": 3, "url": "https://dantelabs.com/ko/genes/kiaa0586" }, { "slug": "mks1", "symbol": "MKS1", "name": "MKS transition zone complex subunit 1", "shared": 3, "url": "https://dantelabs.com/ko/genes/mks1" }, { "slug": "tmem138", "symbol": "TMEM138", "name": "transmembrane protein 138", "shared": 3, "url": "https://dantelabs.com/ko/genes/tmem138" }, { "slug": "tmem216", "symbol": "TMEM216", "name": "transmembrane protein 216", "shared": 3, "url": "https://dantelabs.com/ko/genes/tmem216" }, { "slug": "tmem231", "symbol": "TMEM231", "name": "transmembrane protein 231", "shared": 3, "url": "https://dantelabs.com/ko/genes/tmem231" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 3, "url": "https://dantelabs.com/ko/genes/tmem67" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/ko/genes/ano10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }