Genomics England

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799, GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799, GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799