ATP6V1A

ATPase H+ transporting V1 subunit A
OMIM: 607027, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber ATP6V1A in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cutis laxa, autosomal recessive, type IID (MIM# 617403)
Red ATP6V1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 93, MIM#618012
Green ATP6V1A in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403 Developmental and epileptic encephalopathy 93 MIM#618012
Green ATP6V1A in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403
Green ATP6V1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Epileptic encephalopathy, infantile or early childhood, 618012 Cutis laxa, type IID, 617403
Green ATP6V1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, infantile or early childhood, 3 618012 Cutis laxa, autosomal recessive, type IID 617403
Green ATP6V1A in Cutis Laxa Level 2: Dermatological disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403