Intellectual disability syndromic and non-syndromic
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

Yixin JIANG (University of Melbourne)

Green List (high evidence)

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe developmental delay (DD) / intellectual disability (ID), mild dysmorphism, and impaired neutrophil motility.

Evidence suggests a potential link between SLC35C1 and ID. In one study, both the proband and her older son, who share intellectual disability and craniofacial anomalies, have a potential link to the 11p11.12p12 duplication, which could involve SLC35C1 within this chromosomal region. The absence of the duplication in the unaffected child further supports its potential causative role in the observed phenotypes.

Moreover, research on biallelic variants in SLC35C1 reveals interesting findings. In 14 reported families, only two did not present with characteristic features of SLC35C1-CDG. Two families shared a common allele (p.Phe168del), suggesting a potential association between specific SLC35C1 variants and the phenotype, including ID.

Additionally, another study on the five types of congenital disorders of glycosylation (CDG) highlights the consistent presence of DD/ID in all 19 individuals with SLC35C1-CDG.

Sources: Literature
Created: 27 Apr 2024, 5:59 a.m. | Last Modified: 27 Apr 2024, 5:59 a.m.

Panel Version: 0.5784

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 27 Apr 2024, 5:59 a.m.
Last Modified: 27 Apr 2024, 5:59 a.m.
Panel version: 0.5784

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

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