Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC35A1

SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 10 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

6 patients from 5 unrelated kindreds with biallelic SLC35A1 (Golgi CMP-sialic acid transporter) loss-of-function/hypomorphic variants causing CDG type IIf with global hyposialylation. Index patient had neutropenia, recurrent infections and complete lack of sialyl-Lewis-X (CD15s); most subsequent patients did not present overt infections. AR.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

605634

Clinvar variants

Variants in SLC35A1

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC35A1 was added gene: SLC35A1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: SLC35A1