Genomics England
GMS Panels
Panels
Genes and Entities

ATP8A2

ATPase phospholipid transporting 8A2
OMIM: 605870
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.3
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
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