| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.123 | CHST14 | Zornitza Stark Marked gene: CHST14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.123 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.122 | CHST14 | Zornitza Stark Classified gene: CHST14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.122 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | CHST14 | Zornitza Stark Classified gene: CHST14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.106 | CHST14 |
Ain Roesley gene: CHST14 was added gene: CHST14 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to PMID: 28306229; 25703627; 26373698 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776) Review for gene: CHST14 was set to GREEN Added comment: PMID: 28306229; one of the EDS genes recognised by the International EDS Consortium PMID: 25703627, 5 individuals from 4 families PMID: 26373698, 7 individuals from 4 families Sources: Literature |
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