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  2. Calcium and Phosphate disorders
  3. ATP6V0A4
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Calcium and Phosphate disorders

Gene: ATP6V0A4

Red List (low evidence)
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

1 homozygous case with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Created: 1 Apr 2024, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268

Publications

Created: 1 Apr 2024, 3:53 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp6v0a4 has been classified as Red List (Low Evidence).

1 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A4 were set to 35738466 Phenotypes for gene: ATP6V0A4 were set to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268 Review for gene: ATP6V0A4 was set to RED