Skeletal dysplasia
Gene: SLC39A13

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

spondylo-epi-(meta)-physeal dysplasias gp of SD. At least 3 families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC39A13; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust). Only two variants reported in the literature
Created: 8 Jul 2016, 11:31 a.m.

Created: 21 Jun 2016, 1:09 p.m.

Panel version: 0.78

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350

OMIM

608735

Clinvar variants

Variants in SLC39A13

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 for gene: SLC39A13

6 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)

9 Aug 2016, Gel status: 4