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  2. Calcium and Phosphate disorders
  3. ATP6V1B1
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Calcium and Phosphate disorders

Gene: ATP6V1B1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypophosphataemic rickets can be a feature of the condition
PMID: 35738466 - 2 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction
PMID: 18386070 - 2 siblings with distal renal tubular acidosis and hypophosphataemic rickets homozygous for a missense variant (c.242T>C p.Leu81Pro)
Sources: Literature
Created: 1 Apr 2024, 3:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Apr 2024, 3:48 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp6v1b1 has been classified as Green List (High 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: ATP6V1B1 was added gene: ATP6V1B1 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 35738466; 18386070 Phenotypes for gene: ATP6V1B1 were set to renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968 Review for gene: ATP6V1B1 was set to GREEN gene: ATP6V1B1 was marked as current diagnostic