Cerebellar hypoplasia
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
1 review
Alice Gardham (Genomics England)
Comment on list classification: Only reported in two familiesCreated: 16 Nov 2016, 9:51 a.m.
Recognised on G2P. Offered on UKGTN muscular dystrophy panelCreated: 16 Nov 2016, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
Publications
Details
- Sources
-
- Expert Review Amber
- Emory Genetics Laboratory
- Phenotypes
-
- congenital muscular dystrophies
- OMIM
- 128239
- Clinvar variants
- Variants in DAG1
- Penetrance
- Complete
- 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
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
22 Feb 2017, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
16 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
16 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
14 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DAG1 was created by ellenmcdonagh
14 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DAG1 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory