Genomics England
GMS Panels
Panels
Genes and Entities

AUH

AU RNA binding methylglutaconyl-CoA hydratase
OMIM: 600529
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, OMIM:250950
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, Methylglutaconic aciduria type I (Organic acidurias)
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, 250950, 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia
Green
in White matter disorders - adult onset
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, OMIM:250950