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  3. ATP6V0A4
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: ATP6V0A4

Green List (high evidence)
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene ATP6V0A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 for gene: ATP6V0A4

23 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ATP6V0A4. Mode of inheritance for gene ATP6V0A4 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A4 were set to 10973252; 12414817 Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722