Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V1A

ATPase H+ transporting V1 subunit A
OMIM: 607027
PanelMode of inheritanceDetails
3 panels
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IID, 617403
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, infantile or early childhood, 3 618012, Cutis laxa, autosomal recessive, type IID 617403
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 93, OMIM:618012