| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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