{ "url": "https://dantelabs.com/pl/genes/diaph1", "gene": { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "hgnc": "HGNC:2876", "summary": null, "location": "5q31.3", "locusType": "gene with protein product", "aliases": [ "hDIA1", "LFHL1", "mDia1" ], "previousSymbols": [ "DFNA1" ], "ensemblId": "ENSG00000131504", "entrezId": 1729, "omim": [ "602121" ], "uniprot": [ "O60610" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 141515021, "end": 141619000, "strand": "-", "ensemblTranscript": "ENST00000389054.8", "refseqTranscript": "NM_005219.5", "ensemblProtein": "ENSP00000373706.4", "refseqProtein": "NP_005210.3", "exons": [ { "start": 141515021, "end": 141517008 }, { "start": 141524143, "end": 141524229 }, { "start": 141526038, "end": 141526173 }, { "start": 141526297, "end": 141526461 }, { "start": 141527573, "end": 141527697 }, { "start": 141528453, "end": 141528582 }, { "start": 141528702, "end": 141528941 }, { "start": 141529172, "end": 141529273 }, { "start": 141529603, "end": 141529697 }, { "start": 141534335, "end": 141534433 }, { "start": 141571428, "end": 141571436 }, { "start": 141571926, "end": 141572040 }, { "start": 141573492, "end": 141574208 }, { "start": 141574967, "end": 141575146 }, { "start": 141576230, "end": 141576294 }, { "start": 141576756, "end": 141576871 }, { "start": 141577475, "end": 141577591 }, { "start": 141578225, "end": 141578343 }, { "start": 141578515, "end": 141578625 }, { "start": 141579088, "end": 141579196 }, { "start": 141580744, "end": 141580883 }, { "start": 141582312, "end": 141582375 }, { "start": 141583206, "end": 141583292 }, { "start": 141583485, "end": 141583615 }, { "start": 141584124, "end": 141584225 }, { "start": 141587042, "end": 141587197 }, { "start": 141588224, "end": 141588250 }, { "start": 141618798, "end": 141619000 } ], "cds": { "start": 141516851, "end": 141618914 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 140894583, "end": 140998622, "strand": "-" }, "neighbourhood": { "release": "116", "start": 141067011, "end": 142067010, "genes": [ { "symbol": "PCDHB2", "ensemblId": "ENSG00000112852", "biotype": "protein_coding", "start": 141094597, "end": 141098703, "strand": "+", "slug": "pcdhb2" }, { "symbol": "PCDHB3", "ensemblId": "ENSG00000113205", "biotype": "protein_coding", "start": 141100473, "end": 141103827, "strand": "+", "slug": "pcdhb3" }, { "symbol": "PCDHB4", "ensemblId": "ENSG00000081818", "biotype": "protein_coding", "start": 141121818, "end": 141125623, "strand": "+", "slug": "pcdhb4" }, { "symbol": "PCDHB5", "ensemblId": "ENSG00000113209", "biotype": "protein_coding", "start": 141135206, "end": 141138615, "strand": "+", "slug": "pcdhb5" }, { "symbol": "PCDHB6", "ensemblId": "ENSG00000113211", "biotype": "protein_coding", "start": 141150057, "end": 141153287, "strand": "+", "slug": "pcdhb6" }, { "symbol": "PCDHB7", "ensemblId": "ENSG00000113212", "biotype": "protein_coding", "start": 141172644, "end": 141176383, "strand": "+", "slug": "pcdhb7" }, { "symbol": "PCDHB8", "ensemblId": "ENSG00000120322", "biotype": "protein_coding", "start": 141177790, "end": 141182369, "strand": "+", "slug": "pcdhb8" }, { "symbol": "PCDHB16", "ensemblId": "ENSG00000272674", "biotype": "protein_coding", "start": 141182387, "end": 141186226, "strand": "+", "slug": "pcdhb16" }, { "symbol": "PCDHB9", "ensemblId": "ENSG00000177839", "biotype": "protein_coding", "start": 141187127, "end": 141191541, "strand": "+", "slug": "pcdhb9" }, { "symbol": "PCDHB10", "ensemblId": "ENSG00000120324", "biotype": "protein_coding", "start": 141192353, "end": 141195647, "strand": "+", "slug": "pcdhb10" }, { "symbol": "PCDHB11", "ensemblId": "ENSG00000197479", "biotype": "protein_coding", "start": 141199610, "end": 141203779, "strand": "+", "slug": "pcdhb11" }, { "symbol": "PCDHB12", "ensemblId": "ENSG00000120328", "biotype": "protein_coding", "start": 141208697, "end": 141212571, "strand": "+", "slug": "pcdhb12" }, { "symbol": "PCDHB13", "ensemblId": "ENSG00000187372", "biotype": "protein_coding", "start": 141213919, "end": 141218979, "strand": "+", "slug": "pcdhb13" }, { "symbol": "PCDHB14", "ensemblId": "ENSG00000120327", "biotype": "protein_coding", "start": 141223343, "end": 141227759, "strand": "+", "slug": "pcdhb14" }, { "symbol": "", "ensemblId": "ENSG00000279983", "biotype": "protein_coding", "start": 141223372, "end": 141245861, "strand": "+" }, { "symbol": "PCDHB15", "ensemblId": "ENSG00000113248", "biotype": "protein_coding", "start": 141245395, "end": 141249365, "strand": "+", "slug": "pcdhb15" }, { "symbol": "TAF7", "ensemblId": "ENSG00000178913", "biotype": "protein_coding", "start": 141259884, "end": 141320784, "strand": "-", "slug": "taf7" }, { "symbol": "SLC25A2", "ensemblId": "ENSG00000120329", "biotype": "protein_coding", "start": 141302635, "end": 141304049, "strand": "-", "slug": "slc25a2" }, { "symbol": "PCDHGA1", "ensemblId": "ENSG00000204956", "biotype": "protein_coding", "start": 141330495, "end": 141512977, "strand": "+", "slug": "pcdhga1" }, { "symbol": "PCDHGA2", "ensemblId": "ENSG00000081853", "biotype": "protein_coding", "start": 141338754, "end": 141512977, "strand": "+", "slug": "pcdhga2" }, { "symbol": "PCDHGA3", "ensemblId": "ENSG00000254245", "biotype": "protein_coding", "start": 141343819, "end": 141512977, "strand": "+", "slug": "pcdhga3" }, { "symbol": "PCDHGB1", "ensemblId": "ENSG00000254221", "biotype": "protein_coding", "start": 141350083, "end": 141512977, "strand": "+", "slug": "pcdhgb1" }, { "symbol": "PCDHGA4", "ensemblId": "ENSG00000262576", "biotype": "protein_coding", "start": 141355004, "end": 141512977, "strand": "+", "slug": "pcdhga4" }, { "symbol": "PCDHGB2", "ensemblId": "ENSG00000253910", "biotype": "protein_coding", "start": 141359971, "end": 141512977, "strand": "+", "slug": "pcdhgb2" }, { "symbol": "PCDHGA5", "ensemblId": "ENSG00000253485", "biotype": "protein_coding", "start": 141364162, "end": 141512977, "strand": "+", "slug": "pcdhga5" }, { "symbol": "PCDHGB3", "ensemblId": "ENSG00000262209", "biotype": "protein_coding", "start": 141370237, "end": 141512977, "strand": "+", "slug": "pcdhgb3" }, { "symbol": "PCDHGA6", "ensemblId": "ENSG00000253731", "biotype": "protein_coding", "start": 141373878, "end": 141512977, "strand": "+", "slug": "pcdhga6" }, { "symbol": "PCDHGA7", "ensemblId": "ENSG00000253537", "biotype": "protein_coding", "start": 141382702, "end": 141512977, "strand": "+", "slug": "pcdhga7" }, { "symbol": "PCDHGB4", "ensemblId": "ENSG00000253953", "biotype": "protein_coding", "start": 141387698, "end": 141512977, "strand": "+", "slug": "pcdhgb4" }, { "symbol": "PCDHGA8", "ensemblId": "ENSG00000253767", "biotype": "protein_coding", "start": 141390157, "end": 141512977, "strand": "+", "slug": "pcdhga8" }, { "symbol": "PCDHGB5", "ensemblId": "ENSG00000276547", "biotype": "protein_coding", "start": 141397942, "end": 141512977, "strand": "+", "slug": "pcdhgb5" }, { "symbol": "PCDHGA9", "ensemblId": "ENSG00000261934", "biotype": "protein_coding", "start": 141402765, "end": 141512977, "strand": "+", "slug": "pcdhga9" }, { "symbol": "PCDHGB6", "ensemblId": "ENSG00000253305", "biotype": "protein_coding", "start": 141407989, "end": 141512977, "strand": "+", "slug": "pcdhgb6" }, { "symbol": "PCDHGA10", "ensemblId": "ENSG00000253846", "biotype": "protein_coding", "start": 141412981, "end": 141512977, "strand": "+", "slug": "pcdhga10" }, { "symbol": "PCDHGB7", "ensemblId": "ENSG00000254122", "biotype": "protein_coding", "start": 141417642, "end": 141512977, "strand": "+", "slug": "pcdhgb7" }, { "symbol": "PCDHGA11", "ensemblId": "ENSG00000253873", "biotype": "protein_coding", "start": 141421021, "end": 141512977, "strand": "+", "slug": "pcdhga11" }, { "symbol": "PCDHGA12", "ensemblId": "ENSG00000253159", "biotype": "protein_coding", "start": 141430507, "end": 141512977, "strand": "+", "slug": "pcdhga12" }, { "symbol": "PCDHGC3", "ensemblId": "ENSG00000240184", "biotype": "protein_coding", "start": 141475929, "end": 141512977, "strand": "+", "slug": "pcdhgc3" }, { "symbol": "PCDHGC4", "ensemblId": "ENSG00000242419", "biotype": "protein_coding", "start": 141484997, "end": 141512977, "strand": "+", "slug": "pcdhgc4" }, { "symbol": "PCDHGC5", "ensemblId": "ENSG00000240764", "biotype": "protein_coding", "start": 141489067, "end": 141512977, "strand": "+", "slug": "pcdhgc5" }, { "symbol": "HDAC3", "ensemblId": "ENSG00000171720", "biotype": "protein_coding", "start": 141620766, "end": 141637304, "strand": "-", "slug": "hdac3" }, { "symbol": "RELL2", "ensemblId": "ENSG00000164620", "biotype": "protein_coding", "start": 141636950, "end": 141641065, "strand": "+", "slug": "rell2" }, { "symbol": "FCHSD1", "ensemblId": "ENSG00000197948", "biotype": "protein_coding", "start": 141639296, "end": 141651430, "strand": "-", "slug": "fchsd1" }, { "symbol": "ARAP3", "ensemblId": "ENSG00000120318", "biotype": "protein_coding", "start": 141653204, "end": 141682255, "strand": "-", "slug": "arap3" }, { "symbol": "PCDH1", "ensemblId": "ENSG00000156453", "biotype": "protein_coding", "start": 141853090, "end": 141879246, "strand": "-", "slug": "pcdh1" }, { "symbol": "DELE1", "ensemblId": "ENSG00000081791", "biotype": "protein_coding", "start": 141923800, "end": 141952031, "strand": "+", "slug": "dele1" }, { "symbol": "PCDH12", "ensemblId": "ENSG00000113555", "biotype": "protein_coding", "start": 141943581, "end": 141969741, "strand": "-", "slug": "pcdh12" }, { "symbol": "RNF14", "ensemblId": "ENSG00000013561", "biotype": "protein_coding", "start": 141958305, "end": 142003016, "strand": "+", "slug": "rnf14" }, { "symbol": "GNPDA1", "ensemblId": "ENSG00000113552", "biotype": "protein_coding", "start": 141991749, "end": 142013061, "strand": "-", "slug": "gnpda1" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Utrata słuchu i głuchota", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosomalna dominująca niesyndromowa utrata słuchu", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosomalna dominująca postać niesyndromowej głuchoty.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Niezespołowa genetyczna utrata słuchu", "genes": 97, "inheritance": null, "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.", "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness" }, { "slug": "inherited-thrombocytopenias", "name": "Dziedziczne małopłytkowości", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Dziedziczna małopłytkowość", "genes": 33, "inheritance": null, "description": "Grupa schorzeń powodujących utrzymującą się przez całe życie niską liczbę płytek krwi, związanych z genami takimi jak MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 i MECOM, dziedziczonych w sposób autosomalny dominujący, autosomalny recesywny lub sprzężony z chromosomem X.", "management": "Rozpoznanie genetyczne pozwala uniknąć błędnej diagnozy małopłytkowości immunologicznej, a wraz z nią niepotrzebnego stosowania steroidów lub usunięcia śledziony, oraz kieruje monitorowaniem powiązanych problemów z nerkami, słuchem lub krwią.", "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-vascular-morphology", "name": "Abnormality of the cerebral blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology" }, { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/menorrhagia" }, { "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": "b-cell-lymphoma", "name": "B-cell lymphoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/b-cell-lymphoma" }, { "slug": "post-partum-hemorrhage", "name": "Bleeding post-delivery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/post-partum-hemorrhage" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "combined-immunodeficiency", "name": "Combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/combined-immunodeficiency" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "decreased-total-cd4-t-cell-proportion", "name": "Decreased total CD4+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion" }, { "slug": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive-in-infancy", "name": "Faltering weight in infancy", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hypoplastic-optic-chiasm", "name": "Hypoplastic optic chiasm", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplastic-optic-chiasm" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "metopic-synostosis", "name": "Metopic synostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metopic-synostosis" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "enamel-hypomineralization", "name": "Poorly mineralized tooth enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enamel-hypomineralization" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "progressive-microcephaly", "name": "Progressively abnormally small cranium", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-microcephaly" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "telangiectasia", "name": "Spider veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/telangiectasia" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "myh9", "symbol": "MYH9", "name": "myosin heavy chain 9", "shared": 3, "url": "https://dantelabs.com/pl/genes/myh9" }, { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/pl/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/pl/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/pl/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/pl/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/pl/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/pl/genes/col11a2" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/pl/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/pl/genes/gjb6" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }