Genomics England

MPDU1

mannose-P-dolichol utilization defect 1

Panel	Mode of inheritance	Details
Filter panels7 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 Congenital disorder of glycosylation, type If 609180, Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type If, 609180, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type If, 609180, CONGENITAL DISORDERS OF GLYCOSYLATION
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 Congenital disorder of glycosylation, type If 609180, Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type If 609180