Hyperammonaemia
Gene: MUT

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 30 Oct 2018, 1:32 p.m.

Created: 30 Oct 2018, 1:32 p.m.

Panel version: 1.8

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonyl-CoA mutase deficiency

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 12:33 p.m.

Created: 18 Aug 2016, 12:33 p.m.

Panel version: 0.67

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

Methylmalonic aciduria, mut(0) type 251000

Tags

new-gene-name

OMIM

609058

Clinvar variants

Variants in MUT

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Oct 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

22 Nov 2016, Gel status: 4