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Deafness_IsolatedAndComplex
Gene: ATP6V1B1

ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116039
EnsemblGeneIds (GRCh37): ENSG00000116039
OMIM: 192132, Gene2Phenotype
ATP6V1B1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 families reported.
Created: 25 Sep 2020, 10:04 a.m. | Last Modified: 25 Sep 2020, 10:04 a.m.

Panel Version: 0.405

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300

Publications

Created: 25 Sep 2020, 10:04 a.m.
Last Modified: 25 Sep 2020, 10:04 a.m.
Panel version: 0.405

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300

OMIM

Clinvar variants

Variants in ATP6V1B1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1b1 has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300

25 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP6V1B1 were set to

25 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ATP6V1B1 was set to Unknown