Ketotic hypoglycaemia
Gene: MUT
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 11 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUTCreated: 30 Oct 2018, 1:32 p.m.
Alexander Broomfield (Central Manchester Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a confirmed DD gene for Methylmalonic aciduria type MUT, and has multiple cases and different variants reported in OMIM.Created: 8 Jun 2016, 9:18 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, as well as from review.Created: 20 Apr 2016, 1:33 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
- Tags
- OMIM
- 609058
- Clinvar variants
- Variants in MUT
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Likely inborn error of metabolism
- Intellectual disability
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Adult onset dystonia, chorea or related movement disorder
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Hyperammonaemia
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.
8 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Apr 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MUT was changed to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 0
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)MUT was added to Ketotic hypoglycaemiapanel. Sources: Literature