Genomics England
GMS Panels
Panels
Genes and Entities

AUH

AU RNA binding methylglutaconyl-CoA hydratase
OMIM: 600529
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, OMIM:250950
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, OMIM:250950
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, 250950, 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, Methylglutaconic aciduria type I (Organic acidurias)
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, OMIM:250950