Genomics England
GMS Panels
Panels
Genes and Entities

ATP9A

ATPase phospholipid transporting 9A (putative)
OMIM: 609126
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
Global developmental delay, Intellectual disability, Postnatal microcephaly, Failure to thrive, Abnormality of the abdomen