Phagocyte Defects
Gene: SLC35C1

SLC35C1 (solute carrier family 35 member C1)
EnsemblGeneIds (GRCh38): ENSG00000181830
EnsemblGeneIds (GRCh37): ENSG00000181830
OMIM: 605881, Gene2Phenotype
SLC35C1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.
Created: 21 Dec 2020, 8:43 a.m. | Last Modified: 21 Dec 2020, 8:43 a.m.

Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953

Publications

Created: 21 Dec 2020, 8:43 a.m.
Last Modified: 21 Dec 2020, 8:43 a.m.
Panel version: Imported from Neutrophil Defects panel version 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953

OMIM

605881

Clinvar variants

Variants in SLC35C1

Penetrance

None

Publications

Panels with this gene