Arthrogryposis
Gene: DPM1EnsemblGeneIds (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 arthrogryposisCreated: 4 Jan 2017, 3:30 p.m.
Emma Clement (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Congenital disorder of glycosylation, type Ie, OMIM:608799
- OMIM
- 603503
- Clinvar variants
- Variants in DPM1
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Arthrogryposis
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DPM1 were changed from congenital muscular dystrophies to Congenital disorder of glycosylation, type Ie, OMIM:608799
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DPM1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,
Created
Ellen McDonagh (Genomics England Curator)DPM1 was created by ellenmcdonagh