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  2. Congenital disorders of glycosylation
  3. SLC35A3
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Congenital disorders of glycosylation

Gene: SLC35A3

Red List (low evidence)
SLC35A3 (solute carrier family 35 member A3)
EnsemblGeneIds (GRCh38): ENSG00000117620
EnsemblGeneIds (GRCh37): ENSG00000117620
OMIM: 605632, Gene2Phenotype
SLC35A3 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least 2 variants reported in 2 families.
Created: 19 Dec 2016, 5:04 p.m.
Created: 19 Dec 2016, 5:04 p.m.

Panel version: 0.195

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

A single family with eight patients was described.
Created: 13 Dec 2016, 10:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 10:16 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
OMIM
605632
Clinvar variants
Variants in SLC35A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Sep 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures 615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553

19 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SLC35A3 were set to Arthrogryposis, mental retardation, and seizures 615553

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 0

Added New Source

Daniel Ungar (University of York, Department of Biology)

SLC35A3 was added to Congenital disorders of glycosylationpanel. Sources: Literature

13 Dec 2016, Gel status: 0

Created

Daniel Ungar (University of York, Department of Biology)

SLC35A3 was created by ungardani