| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.133 | COL1A2 | Bryony Thompson Marked gene: COL1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.133 | COL1A2 | Bryony Thompson Gene: col1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.133 | COL1A2 | Bryony Thompson Classified gene: COL1A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.133 | COL1A2 | Bryony Thompson Gene: col1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.132 | COL1A2 |
Bryony Thompson gene: COL1A2 was added gene: COL1A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL1A2 were set to 28306229; 32091183; 2993307; 30821104 Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821; Ehlers-Danlos syndrome, cardiac valvular type MIM#225320 Review for gene: COL1A2 was set to GREEN gene: COL1A2 was marked as current diagnostic Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Monoallelic variants leading to (partial) loss of exon 6 are a well-established cause arthrochalasia type EDS. Biallelic variant that lead to loss-of-function/absence of pro a2(I) collagen chains cause cardiac-valvular type EDS. 6 cases in 5 unrelated families have been reported with homozygous and compound heterozygous variants (PMID: 30821104). Sources: Expert list |
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