Cerebellar hypoplasia

Gene: DAG1

Amber List (moderate evidence)

DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 16 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Only reported in two families
Created: 16 Nov 2016, 9:51 a.m.
Recognised on G2P. Offered on UKGTN muscular dystrophy panel
Created: 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

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