DAG1

PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538, Walker-Warburg syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
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
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538