Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 30 Oct 2018, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Methylmalonyl-CoA mutase deficiency
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 12:33 p.m.
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Tag new-gene-name tag was added to gene: MUT.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MUT were set to Methylmalonic aciduria, mut(0) type 251000
Mode of inheritance for MUT was changed to BIALLELIC, autosomal or pseudoautosomal
MUT was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MUT was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory