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  3. DAG1
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Arthrogryposis

Gene: DAG1

Red List (low evidence)
DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Arthrogryposis only in 1 patient
Created: 22 Mar 2023, 10:33 p.m. | Last Modified: 22 Mar 2023, 10:33 p.m.
Panel Version: 0.361
Created: 22 Mar 2023, 10:33 p.m.
Last Modified: 22 Mar 2023, 10:33 p.m.
Panel version: 0.361

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
OMIM
128239
Clinvar variants
Variants in DAG1
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dag1 has been classified as Red List (Low Evidence).

23 Mar 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)

22 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dag1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DAG1 was added gene: DAG1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DAG1 was set to Unknown