Malformations of cortical development
Gene: DAG1After 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
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
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
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
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
Tag Q3_22_rating was removed from gene: DAG1. Tag Q3_22_expert_review was removed from gene: DAG1.
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.
Gene: dag1 has been classified as Green List (High Evidence).
Tag Q4_21_expert_review tag was added to gene: DAG1.
Publications for gene: DAG1 were set to 24052401; 25934851
Publications for gene: DAG1 were set to 24052401
This gene has been classified as Green List (High Evidence).
DAG1 was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
DAG1 was created by agardham