Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Methylmalonic aciduria cblC type
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported. This gene may not be relevant for this panel as the phenotype does not include hyperammonaemia
Created: 18 Aug 2016, 12:19 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.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type 277400
Mode of inheritance for MMACHC was changed to BIALLELIC, autosomal or pseudoautosomal
MMACHC was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MMACHC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory