Genomics England
GMS Panels
Panels
Genes and Entities

ATP9A

ATPase phospholipid transporting 9A (putative)
OMIM: 609126
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATP9A-related neurodevelopmental disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Postnatal microcephaly, Failure to thrive, Abnormality of the abdomen, Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242