GCDH

glutaryl-CoA dehydrogenase
OMIM: 608801
PanelMode of inheritanceDetails
7 panels
R-numbers: R62
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, OMIM:231670, glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
R-numbers: R57
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Glutaricaciduria, type I, 231670
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1 231670
R-numbers: R449
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, OMIM:231670
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARICACIDEMIA TYPE 1
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, 231670