Genomics England

SLC35C1

solute carrier family 35 member C1

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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc 266265, GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc, 266265, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C)
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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways), Congenital disorder of glycosylation, type IIc 266265
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc 266265, Leukocyte adhesion deficiency (LAD), Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay, Congenital defects of phagocyte number or function
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc 266265, GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)