Cobblestone Malformations
Gene: DAG1EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 12 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 29337005;
- 1x consanguineous Israeli-Arab kindred with Walker-Warburg syndrome
- The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).
- homozygous frameshift
Sources: LiteratureCreated: 26 Aug 2020, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Walker-Warburg syndrome associated with tectocerebellar dysraphia
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
- OMIM
- 128239
- Clinvar variants
- Variants in DAG1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Cobblestone Malformations
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dag1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dag1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: DAG1 was added gene: DAG1 was added to Cobblestone Malformations. Sources: Literature Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 29337005 Phenotypes for gene: DAG1 were set to Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) Penetrance for gene: DAG1 were set to unknown Review for gene: DAG1 was set to RED