ATP6V1B2

ATPase H+ transporting V1 subunit B2
OMIM: 606939, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ATP6V1B2 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 Epileptic encephalopathy
Green ATP6V1B2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy Intellectual Disability microcephaly, DOORS syndrome
Green ATP6V1B2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 Epileptic encephalopathy
Green ATP6V1B2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455
Green ATP6V1B2 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480