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Arthrogryposis

Gene: DAG1

Green List (high evidence)

DAG1 (dystroglycan 1)
EnsemblGeneIds (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)

Green List (high evidence)

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

History Filter Activity

30 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DAG1 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2017, Gel status: 4

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.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

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)

DAG1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DAG1 was created by ellenmcdonagh