Ehlers Danlos syndrome with a likely monogenic cause
Gene: SLC39A13Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic TypeCreated: 18 Mar 2021, 1:58 p.m. | Last Modified: 18 Mar 2021, 1:58 p.m.
Panel Version: 2.43
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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 phenotypesCreated: 18 Apr 2017, 1:05 p.m.
This is a rare recessive form of EDSCreated: 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 SyndromesCreated: 28 Mar 2017, 4:44 p.m.
Comment on phenotypes: amended name - there was a typo Spondylocheirodysplasia not pondylocheirodysplasiaCreated: 28 Mar 2017, 4:19 p.m.
Comment on list classification: Rare recessive form of EDSCreated: 8 Apr 2016, 3:22 p.m.
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
Source NHS GMS was added to SLC39A13. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type
Publications for SLC39A13 were set to 18513683; 18985159; 28306229;28306225
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS;spEDS-SLC39A13
Publications for SLC39A13 were set to 18513683; 18985159; 28306229
Publications for SLC39A13 were set to 18513683; 18985159; 28306229
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS (spEDS)
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS (spEDS)
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
Publications for SLC39A13 were set to 18513683; 18985159
SLC39A13 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green
SLC39A13 was created by ellenmcdonagh