Renal Tubulopathies and related disorders

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. Associated with interstitial nephritis and chronic kidney failure.
Created: 14 May 2022, 7:58 a.m. | Last Modified: 28 May 2024, 1:25 a.m.
Panel Version: 1.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, mut(0) type, MIM# 251000
OMIM
609058
Clinvar variants
Variants in MUT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MUT was added gene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 1977311; 11528502; 12948746 Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000