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  2. Childhood onset dystonia, chorea or related movement disorder
  3. MUT
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Childhood onset dystonia, chorea or related movement disorder

Gene: MUT

Red List (low evidence)
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 11 panels

2 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Gene name updated from MUR (HGNC)
Created: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 5 Apr 2019, 4:40 p.m.
Created: 5 Apr 2019, 4:40 p.m.

Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
  • Expert Review Red
  • London North GLH
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
new-gene-name
OMIM
609058
Clinvar variants
Variants in MUT
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: MUT.

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to MUT. Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Methylmalonic aciduria, mut(0) type 251000 for gene: MUT

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MUT was added gene: MUT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MUT was set to