Genomics England
GMS Panels
Panels
Genes and Entities

ABCA2

ATP binding cassette subfamily A member 2
OMIM: 600047
PanelMode of inheritanceDetails
1 panel
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
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808, Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930