| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.122 | FKBP14 | Bryony Thompson Classified gene: FKBP14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.122 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | FKBP14 | Bryony Thompson Classified gene: FKBP14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | FKBP14 | Bryony Thompson Marked gene: FKBP14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.121 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.120 | FKBP14 |
Bryony Thompson changed review comment from: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). At least 6 unrelated families with homozygous or compound heterozygous variants reported. Sources: Expert list; to: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). At least 6 unrelated families with homozygous or compound heterozygous variants reported with this EDS subtype. Sources: Expert list |
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| Aortopathy_Connective Tissue Disorders v0.120 | FKBP14 | Bryony Thompson edited their review of gene: FKBP14: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.120 | FKBP14 |
Bryony Thompson gene: FKBP14 was added gene: FKBP14 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 22265013; 28306229; 24773188; 27149304 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557 Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). At least 6 unrelated families with homozygous or compound heterozygous variants reported. Sources: Expert list |
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