Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Malonyl-CoA decarboxylase deficiency, malonic aciduria
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Seven variants reported in six un-related cases.
Created: 8 Sep 2016, 7:37 a.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 Green List (High Evidence).
Publications for MLYCD were set to 12955715; 10417274; 10455107
MLYCD was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for MLYCD were set to malonic aciduria; Malonyl-CoA decarboxylase deficiency 248360
Mode of inheritance for MLYCD was changed to BIALLELIC, autosomal or pseudoautosomal
MLYCD was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory