ATP6V1B1

ATPase H+ transporting V1 subunit B1
OMIM: 192132, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ATP6V1B1 in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes distal renal tubular acidosis Renal tubular acidosis with deafness 267300
Green ATP6V1B1 in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Renal tubular acidosis with deafness 267300 distal renal tubular acidosis
Red ATP6V1B1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
Green ATP6V1B1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
Green ATP6V1B1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Expert Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes hearing loss Distal Renal Tubular Acidosis with Progressive Nerve Deafness Renal tubular acidosis with deafness, 267300
Green ATP6V1B1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal tubular acidosis with deafness, 267300 Distal Renal Tubular Acidosis with Progressive Nerve Deafness Distal renal tubular acidosis
Red ATP6V1B1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Renal tubular acidosis with deafness, 267300
Red ATP6V1B1 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert review red Literature Phenotypes Tubulointerstitial disease MIM 267300 Renal tubular acidosis with deafness
Green ATP6V1B1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Renal tubular acidosis with deafness, 267300