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DDG2P

Gene: MUT

Green List (high evidence)

MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 9 May 2019, 4:02 p.m.

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating for METHYLMALONIC ACIDURIA TYPE MUT: confirmed. DDG2P allelic requirement: biallelic. DDG2P mutation consequence: loss of function.
Created: 19 Nov 2018, 11:30 a.m. | Last Modified: 8 Oct 2019, 3:39 p.m.
Panel Version: 1.131

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: MUT.

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MUT was added gene: MUT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT 251000