Genes in panel

Adult onset movement disorder

Gene: MUT

Red List (low evidence)

MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 13 panels

2 reviews

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

Red List (low evidence)

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Methylmalonic aciduria - not a movement disorder
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98

Louise Daugherty (Genomics England Curator)

I don't know

Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 23 Apr 2019, 1:01 p.m.

History Filter Activity

13 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to MUT. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MUT.

23 Apr 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MUT.

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MUT was added gene: MUT was added to Adult onset movement disorder. 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