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  3. MUT
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Aminoacidopathy

Gene: MUT

Green List (high evidence)
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 14 May 2022, 7:58 a.m. | Last Modified: 14 May 2022, 7:58 a.m.
Panel Version: 0.14285

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria, mut(0) type, MIM# 251000

Publications

Created: 14 May 2022, 7:58 a.m.
Last Modified: 14 May 2022, 7:58 a.m.
Panel version: Imported from Mendeliome panel version 0.14285

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
OMIM
609058
Clinvar variants
Variants in MUT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mut has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MUT were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mut has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MUT was added gene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 29152456 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612