Genomics England

RFT1

RFT1 homolog

OMIM: 611908

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 4.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In 612015, Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015
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 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In, 612015
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In, OMIM:612015, RFT1-CDG, MONDO:0012783
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In, 612015, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In 612015, Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In 612015