ATP6V1B1

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ATP6V1B1 in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags treatable
Green ATP6V1B1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968
Green ATP6V1B1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	review	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
Green ATP6V1B1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis with deafness, 267300 (3)
Green ATP6V1B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Renal tubular acidosis & hearing loss
Red ATP6V1B1 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Green ATP6V1B1 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Green ATP6V1B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags treatable renal
Green ATP6V1B1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.17 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Green ATP6V1B1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis with deafness, 267300 (3)