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| Ataxia and cerebellar anomalies - narrow panel v8.39 | ATP6V0C | Ida Ertmanska changed review comment from: Comment on list classification: There are 9 unrelated families reported in literature with individuals habouring CNVs at 16p13.3, with early-onset progressive ataxia and cognitive decline. ATP6V0C is the most likely candidate gene, as it was the only one present in the minimal region of overlap for all patients. However, these structural variants would not be detected in the current analysis pipeline and the the gene should remain Amber.; to: Comment on list classification: There are 9 unrelated families reported in literature with individuals habouring CNVs at 16p13.3, with early-onset progressive ataxia and cognitive decline. ATP6V0C is the most likely candidate gene, as it was the only one present in the minimal region of overlap for all patients. However, these structural variants would not be detected in the current NGS analysis pipeline and this gene should remain Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.39 | ATP6V0C | Ida Ertmanska commented on gene: ATP6V0C: Comment on list classification: There are 9 unrelated families reported in literature with individuals habouring CNVs at 16p13.3, with early-onset progressive ataxia and cognitive decline. ATP6V0C is the most likely candidate gene, as it was the only one present in the minimal region of overlap for all patients. However, these structural variants would not be detected in the current analysis pipeline and the the gene should remain Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.39 | ATP6V0C | Ida Ertmanska Phenotypes for gene: ATP6V0C were changed from to progressive ataxia and cognitive decline | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.38 | ATP6V0C | Ida Ertmanska edited their review of gene: ATP6V0C: Changed phenotypes to: progressive ataxia and cognitive decline | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.38 | ATP6V0C | Ida Ertmanska Classified gene: ATP6V0C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.38 | ATP6V0C | Ida Ertmanska Gene: atp6v0c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.37 | ATP6V0C | Ida Ertmanska Tag currently-ngs-unreportable tag was added to gene: ATP6V0C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.37 | ATP6V0C |
Ida Ertmanska changed review comment from: PMID: 41349538 Fasham et al., 2025 Report of 11 individuals from 9 unrelated families with copy-number gains at 16p13.3, with early-onset progressive ataxia and cognitive decline (9-32 years). Method: mostly microarray + WGS. The structural variants arose de novo in 5 patients, one was inherited from an unaffected mosaic father, and 2 inherited from an affected mother; 3 cases with unknown inheritance. In addition to cognitive impairment and progressive ataxia, individuals presented with: regression 8/10, dysarthria 10/11, axonal neuropathy 9/11, nystagmus 4/11, pes cavus 5/6, scoliosis/kyphosis 7/10, optic atrophy 2/10. Cerebellar and caudate atrophy was seen in 11/11 individuals. ATP6V0C is linked to Epilepsy, early-onset, 3, with or without developmental delay, MIM:620465 in OMIM (accessed 29th Dec 2025). Sources: Literature; to: PMID: 41349538 Fasham et al., 2025 Report of 11 individuals from 9 unrelated families with copy-number gains at 16p13.3, with early-onset progressive ataxia and cognitive decline (9-32 years). Method: mostly microarray + WGS. The structural variants arose de novo in 5 patients, one was inherited from an unaffected mosaic father, and 2 inherited from an affected mother; 3 cases with unknown inheritance. In addition to cognitive impairment and progressive ataxia, individuals presented with: regression 8/10, dysarthria 10/11, axonal neuropathy 9/11, nystagmus 4/11, pes cavus 5/6, scoliosis/kyphosis 7/10, optic atrophy 2/10. Cerebellar and caudate atrophy was seen in 11/11 individuals. The minimal region of overlap for all patients included a single gene (ATP6V0C); RNA-seq using whole-blood and fibroblast/lymphoblast cultures indicated increased expression of several genes within the SV, with ATP6V0C showing the most significant increase. Hence, ATP6V0C is the mostly likely candidate gene. ATP6V0C is linked to Epilepsy, early-onset, 3, with or without developmental delay, MIM:620465 in OMIM (accessed 29th Dec 2025). Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v8.37 | ATP6V0C |
Ida Ertmanska gene: ATP6V0C was added gene: ATP6V0C was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature cnv tags were added to gene: ATP6V0C. Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V0C were set to 41349538 Review for gene: ATP6V0C was set to AMBER Added comment: PMID: 41349538 Fasham et al., 2025 Report of 11 individuals from 9 unrelated families with copy-number gains at 16p13.3, with early-onset progressive ataxia and cognitive decline (9-32 years). Method: mostly microarray + WGS. The structural variants arose de novo in 5 patients, one was inherited from an unaffected mosaic father, and 2 inherited from an affected mother; 3 cases with unknown inheritance. In addition to cognitive impairment and progressive ataxia, individuals presented with: regression 8/10, dysarthria 10/11, axonal neuropathy 9/11, nystagmus 4/11, pes cavus 5/6, scoliosis/kyphosis 7/10, optic atrophy 2/10. Cerebellar and caudate atrophy was seen in 11/11 individuals. ATP6V0C is linked to Epilepsy, early-onset, 3, with or without developmental delay, MIM:620465 in OMIM (accessed 29th Dec 2025). Sources: Literature |
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