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Aortopathy_Connective Tissue Disorders v0.111 SLC39A13 Bryony Thompson Marked gene: SLC39A13 as ready
Aortopathy_Connective Tissue Disorders v0.111 SLC39A13 Bryony Thompson Gene: slc39a13 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.111 SLC39A13 Bryony Thompson Classified gene: SLC39A13 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.111 SLC39A13 Bryony Thompson Gene: slc39a13 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.96 SLC39A13 Paul De Fazio 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
Added comment: 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