Aortopathy_Connective Tissue Disorders

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 5 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

3 unrelated families described to date (PMID: 18985159;18513683). Is included in The 2017 International Classification of the Ehlers-Danlos Syndromes (PMID: 28306229). See PMID: 28306225 for a review.
Sources: Literature
Created: 1 Jul 2020, 2:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350
OMIM
608735
Clinvar variants
Variants in SLC39A13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc39a13 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc39a13 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: SLC39A13 was added gene: SLC39A13 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A13 were set to 18985159; 18513683; 28306229; 28306225 Phenotypes for gene: SLC39A13 were set to Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350 Review for gene: SLC39A13 was set to GREEN gene: SLC39A13 was marked as current diagnostic