Inborn errors of metabolismGene: DPM2
Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Created: 19 Sep 2019, 3:35 p.m. | Last Modified: 19 Sep 2019, 3:35 p.m.
Panel Version: 1.268
Comment on list classification: This gene is green on the Congenital muscular dystrophy gene panel (version 1.4) and therefore added to this panel and promoted to green due to comments from that panel: "23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Curator), Jan. 25, 2017, 4:41 p.m."
Created: 15 Feb 2017, 8:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Iu 615042
Gene: dpm2 has been classified as Green List (High Evidence).
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2 Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149
gene: DPM2 was added gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042