Genomics England
GMS Panels
Panels
Genes and Entities

GCDH

glutaryl-CoA dehydrogenase
OMIM: 608801
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, OMIM:231670, glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Glutaricaciduria, type I, 231670
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1 231670
Green
in Diagnostic testing for Glutaric acidaemia I
R-numbers: R449
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, OMIM:231670
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, 231670