Genomics England
GMS Panels
Panels
Genes and Entities

ACBD5

acyl-CoA binding domain containing 5
OMIM: 616618
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACBD5 deficiency, OMIM:618863
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863