Congenital disorders of glycosylation
Gene: SLC39A8

SLC39A8 (solute carrier family 39 member 8)
EnsemblGeneIds (GRCh38): ENSG00000138821
EnsemblGeneIds (GRCh37): ENSG00000138821
OMIM: 608732, Gene2Phenotype
SLC39A8 is in 10 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9C0K1-1
Created: 9 Jan 2020, 2:57 p.m. | Last Modified: 9 Jan 2020, 2:57 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:57 p.m.
Last Modified: 9 Jan 2020, 2:57 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q9C0K1-1#Disease
Created: 8 Apr 2021, 2:08 p.m. | Last Modified: 8 Apr 2021, 2:08 p.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported 4 families.
Created: 19 Dec 2016, 2:42 p.m.

Created: 19 Dec 2016, 2:42 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Oral galactose administration can serve as treatment
Shows genetic association with schizophrenia
Created: 14 Dec 2016, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 3:21 p.m.

Panel version: 0.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Other

Phenotypes

Congenital disorder of glycosylation, type IIn 616721

OMIM

608732

Clinvar variants

Variants in SLC39A8

Penetrance

Complete

Publications

Panels with this gene