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 2.4	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 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	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 Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc, 266265, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C)
Green in Primary immunodeficiency R-numbers: R15 Signed-off version 2.1	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 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIc 266265, GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)