Ataxia and cerebellar anomalies - narrow panel
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- congenital muscular dystrophies
- OMIM
- 128239
- Clinvar variants
- Variants in DAG1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Arthrogryposis
- Cerebellar hypoplasia
- COVID-19 research
- Structural eye disease
- Fetal anomalies
- Congenital muscular dystrophy
- Malformations of cortical development
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Bilateral congenital or childhood onset cataracts
History Filter Activity
9 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DAG1 was added gene: DAG1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: DAG1 was set to Unknown Phenotypes for gene: DAG1 were set to congenital muscular dystrophies