Ketotic hypoglycaemia

Gene: MUT

Green List (high evidence)

MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 12 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 30 Oct 2018, 1:32 p.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

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
new-gene-name
OMIM
609058
Clinvar variants
Variants in MUT
Penetrance
Complete
Panels with this gene

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