Ehlers Danlos syndromes

Gene: SLC39A13

Green List (high evidence)

SLC39A13 (solute carrier family 39 member 13)
EnsemblGeneIds (GRCh38): ENSG00000165915
EnsemblGeneIds (GRCh37): ENSG00000165915
OMIM: 608735, Gene2Phenotype
SLC39A13 is in 9 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

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

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.

Ellen Thomas (Genomics England Curator)

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

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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

28 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC39A13 were set to 18513683; 18985159; 28306229;28306225

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS;spEDS-SLC39A13

28 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC39A13 were set to 18513683; 18985159; 28306229

28 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC39A13 were set to 18513683; 18985159; 28306229

28 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS (spEDS)

28 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS (spEDS)

28 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350

28 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC39A13 were set to 18513683; 18985159

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC39A13 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC39A13 was created by ellenmcdonagh