Arthrogryposis
Gene: DPM2Comment on list classification: Only 3 patients from 2 families. Two sibs had congenital contracturesCreated: 4 Jan 2017, 12:37 p.m.
2 families with CMD-CDG overlap see comment for DPM1 (messina 2009, Barone 2012,)Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy.
Phenotypes for gene: DPM2 were changed from congenital muscular dystrophies; congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy. to Congenital disorder of glycosylation, type Iu, OMIM:615042
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 Amber List (Moderate Evidence).
Publications for DPM2 were set to 23109149
Publications for DPM2 were set to 23109149
This gene has been classified as Amber List (Moderate Evidence).
DPM2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DPM2 was added to Arthrogryposispanel. Source:
DPM2 was added to Arthrogryposispanel. Sources: Expert list
DPM2 was created by ellenmcdonagh