Malformations of cortical development

Gene: DAG1

Green List (high evidence)

DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P. All inframe/missense
Created: 19 Dec 2016, 2:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
OMIM
128239
Clinvar variants
Variants in DAG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

19 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

DAG1 was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

DAG1 was created by agardham