Phenotype associated with this gene is not relevant for this panel
Created: 14 Feb 2017, 1:34 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.
Other causes of methylmalonic acidaemia cause hyperammonaemia
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Methylmalonic aciduria due to transcobalamin receptor defect
Promoted to version 1 on 22nd November 2016
CD320 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory