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| Aortopathy_Connective Tissue Disorders v0.98 | ADAMTS2 | Bryony Thompson Marked gene: ADAMTS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.98 | ADAMTS2 | Bryony Thompson Gene: adamts2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.98 | ADAMTS2 | Bryony Thompson Publications for gene: ADAMTS2 were set to PMID: 30071989; 26765342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.97 | ADAMTS2 | Bryony Thompson Classified gene: ADAMTS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.97 | ADAMTS2 | Bryony Thompson Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.97 | ADAMTS2 | Bryony Thompson Gene: adamts2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | ADAMTS2 |
Ain Roesley gene: ADAMTS2 was added gene: ADAMTS2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS2 were set to PMID: 30071989; 26765342 Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Review for gene: ADAMTS2 was set to GREEN Added comment: PMID: 30071989; not a gene for HTAAD by Clingen working group PMID: 26765342; 5 patients form 4 unrelated families (3 PTVs + 1 exon del). qPCR of total RNA demonstrated significantly reduced ADAMTS2 expression and LoF was further supported by functional assays using dermal fibroblasts. Authors noted that Family 1 and Patient 5 are clinically milder and hypothesised that their C-term variants may lead to some transcripts escaping NMD, producing a truncated yet partially functional protein. Figure 2 provides an additional 6 previously reported variants (2 PTVs + 4 exon dels. Sources: Literature |
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