Genomics England
GMS Panels
Panels
Genes and Entities

ABCD4

ATP binding cassette subfamily D member 4
OMIM: 603214
PanelMode of inheritanceDetails
2 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblJ type
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
Methylmalonic aciduria and homocystinuria, cblJ type, 614857, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MAHCJ