Genomics England

DPM3

dolichyl-phosphate mannosyltransferase subunit 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937, ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937