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 5.3	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 4.3	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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In, 612015
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 6.13	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 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 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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type In 612015