Arthrogryposis
Gene: DAG1EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels
2 reviews
Alice Gardham (Genomics England)
Emma Clement (Great Ormond Street Hospital)
2 separate families with definitive CMD and other families with allied phenotypes. Good models to support pathogenicity.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- congenital muscular dystrophies
- congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
- OMIM
- 128239
- Clinvar variants
- Variants in DAG1
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DAG1 was changed to BIALLELIC, autosomal or pseudoautosomal
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 Green List (High Evidence).
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)DAG1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,
Created
Ellen McDonagh (Genomics England Curator)DAG1 was created by ellenmcdonagh