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Mendeliome

Gene: ATP6V1C1

Red List (low evidence)

ATP6V1C1 (ATPase H+ transporting V1 subunit C1)
EnsemblGeneIds (GRCh38): ENSG00000155097
EnsemblGeneIds (GRCh37): ENSG00000155097
OMIM: 603097, Gene2Phenotype
ATP6V1C1 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

1x de novo missense p.Glu289Lys (absent in v4 gnomad). Manual inspection of IGV found the dad was mosaic 7% VAF and he shared some of the clinical features (minor digit anomalies).

Some functional studies using patient fibroblasts were performed, demonstrating similar effects as known pathogenic variants in ATP6V1B2.
- lysosomal morphology
- autophagic flux dysregulation
- increased acidification of lysosome

borderline red/amber
Sources: Literature
Created: 4 Sep 2024, 6:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related
OMIM
603097
Clinvar variants
Variants in ATP6V1C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1c1 has been classified as Red List (Low Evidence).

5 Sep 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP6V1C1 were changed from to neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related

4 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ain Roesley (Victorian Clinical Genetics Services)

gene: ATP6V1C1 was added gene: ATP6V1C1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATP6V1C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V1C1 were set to 39210597 Review for gene: ATP6V1C1 was set to AMBER gene: ATP6V1C1 was marked as current diagnostic