Genomics England
GMS Panels
Panels
Genes and Entities

DAG1

dystroglycan 1
OMIM: 128239
PanelMode of inheritanceDetails
8 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.37
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Limb girdle muscular dystrophy, congenital muscular dystrophy, Limb-girdle muscular dystrophy
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538