Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V1A

ATPase H+ transporting V1 subunit A
OMIM: 607027
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Cutis Laxa (AR), Epileptic encephalopathy, infantile or early childhood, 3 (AD)
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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 Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IID, OMIM:617403
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 93, OMIM:618012