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  2. Fetal anomalies
  3. ATP6V0A1
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Fetal anomalies

Gene: ATP6V0A1

Amber List (moderate evidence)
ATP6V0A1 (ATPase H+ transporting V0 subunit a1)
EnsemblGeneIds (GRCh38): ENSG00000033627
EnsemblGeneIds (GRCh37): ENSG00000033627
OMIM: 192130, Gene2Phenotype
ATP6V0A1 is in 6 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
OMIM
192130
Clinvar variants
Variants in ATP6V0A1
Penetrance
None
Panels with this gene

History Filter Activity

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ATP6V0A1 was added gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal