SLC35C1

solute carrier family 35 member C1
OMIM: 605881
PanelMode of inheritanceDetails
7 panels
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
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
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
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)
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
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)