Genomics England
GMS Panels
Panels
Genes and Entities

ATP6AP2

ATPase H+ transporting accessory protein 2
OMIM: 300556
PanelMode of inheritanceDetails
1 panel
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, Hedera type, 300423, MENTAL RETARDATION X-LINKED WITH EPILEPSY, X-linked intellectual disability, Hedera type