Genomics England
GMS Panels
Panels
Genes and Entities

ATP8A2

ATPase phospholipid transporting 8A2
OMIM: 605870
PanelMode of inheritanceDetails
1 panel
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104