Genomics England

protein-O-mannose kinase

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders R-numbers: R79 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Green in Hydrocephalus R-numbers: R86 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12