{ "url": "https://dantelabs.com/cs/genes/pmpca", "gene": { "slug": "pmpca", "symbol": "PMPCA", "name": "peptidase, mitochondrial processing subunit alpha", "hgnc": "HGNC:18667", "summary": null, "location": "9q34.3", "locusType": "gene with protein product", "aliases": [ "KIAA0123", "Alpha-MPP", "MAS2" ], "previousSymbols": [ "INPP5E", "SCAR2", "CLA1" ], "ensemblId": "ENSG00000165688", "entrezId": 23203, "omim": [ "613036" ], "uniprot": [ "Q10713" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 136410658, "end": 136423761, "strand": "+", "ensemblTranscript": "ENST00000371717.8", "refseqTranscript": "NM_015160.3", "ensemblProtein": "ENSP00000360782.3", "refseqProtein": "NP_055975.1", "exons": [ { "start": 136410658, "end": 136410739 }, { "start": 136411997, "end": 136412199 }, { "start": 136412490, "end": 136412569 }, { "start": 136412810, "end": 136412892 }, { "start": 136414553, "end": 136414647 }, { "start": 136416291, "end": 136416391 }, { "start": 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"tmem250" }, { "symbol": "LHX3", "ensemblId": "ENSG00000107187", "biotype": "protein_coding", "start": 136196250, "end": 136205128, "strand": "-", "slug": "lhx3" }, { "symbol": "QSOX2", "ensemblId": "ENSG00000165661", "biotype": "protein_coding", "start": 136206332, "end": 136245831, "strand": "-", "slug": "qsox2" }, { "symbol": "CCDC187", "ensemblId": "ENSG00000260220", "biotype": "protein_coding", "start": 136249973, "end": 136306901, "strand": "-", "slug": "ccdc187" }, { "symbol": "GPSM1", "ensemblId": "ENSG00000160360", "biotype": "protein_coding", "start": 136327425, "end": 136359608, "strand": "+", "slug": "gpsm1" }, { "symbol": "DNLZ", "ensemblId": "ENSG00000213221", "biotype": "protein_coding", "start": 136359480, "end": 136363773, "strand": "-", "slug": "dnlz" }, { "symbol": "", "ensemblId": "ENSG00000289701", "biotype": "protein_coding", "start": 136361904, "end": 136373644, "strand": "-" }, { "symbol": "CARD9", "ensemblId": "ENSG00000187796", "biotype": "protein_coding", "start": 136363956, "end": 136373683, "strand": "-", "slug": "card9" }, { "symbol": "SNAPC4", "ensemblId": "ENSG00000165684", "biotype": "protein_coding", "start": 136375567, "end": 136400226, "strand": "-", "slug": "snapc4" }, { "symbol": "ENTR1", "ensemblId": "ENSG00000165689", "biotype": "protein_coding", "start": 136401922, "end": 136410621, "strand": "-", "slug": "entr1" }, { "symbol": "INPP5E", "ensemblId": "ENSG00000148384", "biotype": "protein_coding", "start": 136428615, "end": 136439882, "strand": "-", "slug": "inpp5e" }, { "symbol": "SEC16A", "ensemblId": "ENSG00000148396", "biotype": "protein_coding", "start": 136440096, "end": 136483843, "strand": "-", "slug": "sec16a" }, { "symbol": "NOTCH1", "ensemblId": "ENSG00000148400", "biotype": "protein_coding", "start": 136494433, "end": 136546048, "strand": "-", "slug": "notch1" }, { "symbol": "EGFL7", "ensemblId": "ENSG00000172889", "biotype": "protein_coding", "start": 136658284, "end": 136672684, "strand": "+", "slug": "egfl7" }, { "symbol": "AGPAT2", "ensemblId": "ENSG00000169692", "biotype": "protein_coding", "start": 136673142, "end": 136687483, "strand": "-", "slug": "agpat2" }, { "symbol": "DIPK1B", "ensemblId": "ENSG00000165716", "biotype": "protein_coding", "start": 136712302, "end": 136724742, "strand": "+", "slug": "dipk1b" }, { "symbol": "LCN10", "ensemblId": "ENSG00000187922", "biotype": "protein_coding", "start": 136738167, "end": 136743356, "strand": "-", "slug": "lcn10" }, { "symbol": "", "ensemblId": "ENSG00000204003", "biotype": "protein_coding", "start": 136738167, "end": 136748453, "strand": "-" }, { "symbol": "LCN6", "ensemblId": "ENSG00000267206", "biotype": "protein_coding", "start": 136744017, "end": 136748531, "strand": "-", "slug": "lcn6" }, { "symbol": "LCN8", "ensemblId": "ENSG00000204001", "biotype": "protein_coding", "start": 136754386, "end": 136758543, "strand": "-", "slug": "lcn8" }, { "symbol": "LCN15", "ensemblId": "ENSG00000177984", "biotype": "protein_coding", "start": 136759634, "end": 136766255, "strand": "-", "slug": "lcn15" }, { "symbol": "TMEM141", "ensemblId": "ENSG00000244187", "biotype": "protein_coding", "start": 136791303, "end": 136793317, "strand": "+", "slug": "tmem141" }, { "symbol": "", "ensemblId": "ENSG00000272896", "biotype": "protein_coding", "start": 136791379, "end": 136800595, "strand": "+" }, { "symbol": "CCDC183", "ensemblId": "ENSG00000213213", "biotype": "protein_coding", "start": 136796338, "end": 136807741, "strand": "+", "slug": "ccdc183" }, { "symbol": "RABL6", "ensemblId": "ENSG00000196642", "biotype": "protein_coding", "start": 136807848, "end": 136841187, "strand": "+", "slug": "rabl6" }, { "symbol": "AJM1", "ensemblId": "ENSG00000232434", "biotype": "protein_coding", "start": 136842478, "end": 136848801, "strand": "+", "slug": "ajm1" }, { "symbol": "PHPT1", "ensemblId": "ENSG00000054148", "biotype": "protein_coding", "start": 136847994, "end": 136851043, "strand": "+", "slug": "phpt1" }, { "symbol": "MAMDC4", "ensemblId": "ENSG00000177943", "biotype": "protein_coding", "start": 136850943, "end": 136860802, "strand": "+", "slug": "mamdc4" }, { "symbol": "EDF1", "ensemblId": "ENSG00000107223", "biotype": "protein_coding", "start": 136862113, "end": 136866343, "strand": "-", "slug": "edf1" }, { "symbol": "TRAF2", "ensemblId": "ENSG00000127191", "biotype": "protein_coding", "start": 136881903, "end": 136929221, "strand": "+", "slug": "traf2" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal Recessive Cerebellar Ataxia", "genes": 57, "inheritance": "autosomal-recessive", "description": "A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.", "management": "Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/cs/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diffuse-cerebral-atrophy", "name": "Diffuse cerebral atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy" }, { "slug": "dilated-fourth-ventricle", "name": "Dilated fourth ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-fourth-ventricle" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "enlarged-cisterna-magna", "name": "Enlarged cisterna magna", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enlarged-cisterna-magna" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gliosis" }, { "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": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "impaired-visuospatial-constructive-cognition", "name": "Impaired visuospatial constructive cognition", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-visuospatial-constructive-cognition" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "progressive-psychomotor-deterioration", "name": "Progressive psychomotor deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/unsteady-gait" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/cs/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/cs/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/cs/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/cs/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/cs/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/cs/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/cs/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/cs/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 1, "url": "https://dantelabs.com/cs/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 1, "url": "https://dantelabs.com/cs/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/cspp1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }