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Arthrogryposis

Gene: DPM1

Red List (low evidence)

DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)
EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 12 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 3:30 p.m.

Emma Clement (Great Ormond Street Hospital)

I don't know

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.

Phenotypes
congenital muscular dystrophies

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DPM1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DPM1 was created by ellenmcdonagh