This Panel is marked as Internal
Dystonia - childhood onset
Gene: MUT
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Methylmalonic aciduria, mut(0) type 251000
- Tags
- OMIM
- 609058
- Clinvar variants
- Variants in MUT
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Intellectual disability
- DDG2P
- Hyperammonaemia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: MUT.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MUT was added gene: MUT was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000