Vitamin metabolism disorders
Gene: MUTEnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert listCreated: 12 Jun 2024, 2:36 a.m. | Last Modified: 13 Jun 2024, 12:08 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
-
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mut has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mut has been classified as Green List (High Evidence).
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 Vitamin metabolism disorders. Sources: Expert list Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 20301409 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Review for gene: MUT was set to GREEN gene: MUT was marked as current diagnostic