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:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423, syndromic X-linked intellectual disability Hedera type, MONDO:0010319