Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 3:30 p.m.
only 1 definite CMD case report but this group including DPM1-3 give overlap phenotype between CDG and CMD and it is probable that other CDG reports also have same muscle phenotype. Combined N and O glycolsylation defect so good molecular explanation, zebrs fish models show dystrophic muscle 4 biosynthetic pathways depend on DPM activity including O-mannosylation of ADG so good supportive data even if reported cases are few.
Created: 19 Dec 2016, 11:47 a.m.
congenital muscular dystrophies
Mode of inheritance for gene: DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were changed from congenital muscular dystrophies to Congenital disorder of glycosylation, type Ie, OMIM:608799
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
DPM1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,
DPM1 was created by ellenmcdonagh