DAG1

dystroglycan 1
OMIM: 128239, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red DAG1 in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review 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)

Red DAG1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)

Red DAG1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)

Green DAG1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DAG1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Walker-Warburg syndrome and tectocerebellar dysgraphia

Green DAG1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Walker-Warburg syndrome and tectocerebellar dysgraphia

Red DAG1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Walker-Warburg syndrome and tectocerebellar dysgraphia

Green DAG1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

Green DAG1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818

Red DAG1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9

Amber DAG1 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)

Red DAG1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9