Genomics England

UGGT1

UDP-glucose glycoprotein glucosyltransferase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IICC, OMIM:621381, congenital disorder of glycosylation, type IIcc, MONDO:0980705
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment, MONDO:0015286
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 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IICC, OMIM:621381, congenital disorder of glycosylation, type IIcc, MONDO:0980705
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IICC, OMIM:621381, congenital disorder of glycosylation, type IIcc, MONDO:0980705
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IICC, OMIM:621381, congenital disorder of glycosylation, type IIcc, MONDO:0980705
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 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IICC, OMIM:621381, congenital disorder of glycosylation, type IIcc, MONDO:0980705