Genomics England
GMS Panels
Panels
Genes and Entities

ACER3

alkaline ceramidase 3
OMIM: 617036
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACER3-related leukodystrophy, OMIM:617762
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, progressive, early childhood-onset, OMIM:617762