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Ehlers Danlos syndrome with a likely monogenic cause
Gene: SLC39A13

SLC39A13 (solute carrier family 39 member 13)
EnsemblGeneIds (GRCh38): ENSG00000165915
EnsemblGeneIds (GRCh37): ENSG00000165915
OMIM: 608735, Gene2Phenotype
SLC39A13 is in 8 panels

7 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Created: 18 Mar 2021, 1:58 p.m. | Last Modified: 18 Mar 2021, 1:58 p.m.

Panel Version: 2.43

Created: 18 Mar 2021, 1:58 p.m.
Last Modified: 18 Mar 2021, 1:58 p.m.
Panel version: 2.43

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC39A13; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Louise Daugherty (Genomics England Curator)

Comment on publications: Three mutations have been identified so far in a total of eight patients from three unrelated families with spondylocheirodysplastic form of Ehlers-Danlos syndrome PMID:18513683 (6 affected members of two unrelated consanguineous families) and PMID:18985159 (2 siblings)

Created: 18 Apr 2017, 1:07 p.m.

Comment on publications: added relevant publications to reflect nomenclature - Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225)
Created: 18 Apr 2017, 1:05 p.m.

Comment on phenotypes: updated phenotypes
Created: 18 Apr 2017, 1:05 p.m.

This is a rare recessive form of EDS
Created: 30 Mar 2017, 11:24 a.m.

In view of the major clinical overlap of EDS caused by SLC39A13 mutations with the phenotypes caused by B3GALT6 and B4GALT7mutations, these three conditions are now grouped within the same clinical entity (“Spondylodysplastic EDS”) in the new EDS classification (PMID:28306229)
Created: 29 Mar 2017, 12:07 p.m.

Comment on phenotypes: Added Clinical EDS subtype- Spondylodysplastic EDS (spEDS) from 2017 International Diagnostic Criteria (PMID:28306229)
Created: 29 Mar 2017, 9:28 a.m.

Comment on publications: Added PMID 28306229 :The 2017 International Classification of the Ehlers–Danlos Syndromes
Created: 28 Mar 2017, 4:44 p.m.

Comment on phenotypes: amended name - there was a typo Spondylocheirodysplasia not pondylocheirodysplasia
Created: 28 Mar 2017, 4:19 p.m.

Created: 30 Mar 2017, 11:24 a.m.

Panel version: 0.45

Ellen Thomas (Genomics England Curator)

Comment on list classification: Rare recessive form of EDS
Created: 8 Apr 2016, 3:22 p.m.

Created: 8 Apr 2016, 3:22 p.m.

Panel version: Imported from "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)" panel version 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Emory Genetics Laboratory
Expert list
Radboud University Medical Center, Nijmegen
Expert Review Green

Phenotypes

Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350

OMIM

608735

Clinvar variants

Variants in SLC39A13

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SLC39A13. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4