Arthrogryposis
Gene: DPM3
DPM3 (dolichyl-phosphate mannosyltransferase subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 11 panels
1 review
Emma Clement (Great Ormond Street Hospital)
1 report in literature (lefeber 2009)Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- congenital muscular dystrophies
- OMIM
- 605951
- Clinvar variants
- Variants in DPM3
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Arthrogryposis
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
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)DPM3 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DPM3 was created by ellenmcdonagh