Skeletal dysplasia
Gene: SLC39A13
spondylo-epi-(meta)-physeal dysplasias gp of SD. At least 3 families; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust). Only two variants reported in the literatureCreated: 8 Jul 2016, 11:31 a.m.
Tier 1Created: 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
Added phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 for gene: SLC39A13
Source NHS GMS was added to SLC39A13. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
SLC39A13 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Mode of inheritance for SLC39A13 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC39A13 was added to Unexplained skeletal dysplasiapanel. Sources:
SLC39A13 was created by sleigh