Structural eye disease
Gene: DAG1
DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Reis reported two sisters with Walker-Warburg syndrome including cataract, retinal dystrophy and buphthalmos with a homozygous missense in DAG1 - segregation unknown. Riemersma reported family with 5 siblings with Walker-Warburg syndrome and eye anomalies including microphthalmia, buphthalmos, corneal opacities and glaucoma, with a homozygous truncating variant, segregation unknown.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Dystroglycanopathy, Type A, 9, MDDGA9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- London North GLH
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
- OMIM
- 128239
- Clinvar variants
- Variants in DAG1
- Penetrance
- None
- Publications
- 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
- Fetal anomalies
- COVID-19 research
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
1 Oct 2019, Gel status: 2
Added New Source, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to DAG1. Publications for gene DAG1 were changed from to 25934851; 24052401
16 Sep 2019, Gel status: 2
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to DAG1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
23 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DAG1 was added gene: DAG1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818