Malformations of cortical development
Gene: DAG1EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. Additional commends from reviewing GLHs: "Clearly disease-causing. Cobblestone lissencephaly is a feature of MDDGC disorders and probably overlaps this panel. Reasonable to retain I think."Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:58 a.m.
Panel Version: 3.11
Eleanor Williams (Genomics England Curator)
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 4:47 p.m. | Last Modified: 5 Oct 2022, 4:47 p.m.
Panel Version: 2.149
Sarah Leigh (Genomics England Curator)
Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 5:02 p.m. | Last Modified: 14 Dec 2021, 5:02 p.m.
Panel Version: 2.123
The review by Zornitza Stark has highlighted that there is insufficient evidence for DAG1 to be green on this panel, as there is only a single family reported where there are cortical malformations (PMID 24052401) associated with a homozygous DAG1 variant. Studies in mice with brain-selective deletion of dystroglycan, can cause congenital muscular dystrophy-like brain malformations, including disarray of cerebral cortical layering, fusion of cerebral hemispheres and cerebellar folia, and aberrant migration of granule cells (PMID 12140559). However, this is still insufficient to justify the green rating of DAG1 on this panel.Created: 14 Dec 2021, 5:01 p.m. | Last Modified: 14 Dec 2021, 5:01 p.m.
Panel Version: 2.122
Zornitza Stark (Australian Genomics)
Single family reported with cortical malformations in two siblings.Created: 27 Aug 2020, 10:28 a.m. | Last Modified: 27 Aug 2020, 10:28 a.m.
Panel Version: 2.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Publications
Alice Gardham (Genomics England)
Recognised on G2P. All inframe/missenseCreated: 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
-
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating was removed from gene: DAG1. Tag Q3_22_expert_review was removed from gene: DAG1.
Removed Tag, Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: DAG1. Tag Q3_22_rating tag was added to gene: DAG1. Tag Q3_22_expert_review tag was added to gene: DAG1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dag1 has been classified as Green List (High Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: DAG1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DAG1 were set to 24052401; 25934851
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DAG1 were set to 24052401
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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
Created
Alice Gardham (Genomics England)DAG1 was created by agardham