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Hearing loss

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 4 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#602722:Renal tubular acidosis, distal, autosomal recessive[<omim version=1.0><clinicalSynopsisList>]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN