Renal Tubulopathies and related disorders
Gene: MUT
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Aminoacidopathy
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Renal Tubulopathies and related disorders
- Prepair 500+
- Cerebral Palsy
- Vitamin metabolism disorders
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