| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.113 | PRDM5 | Bryony Thompson Marked gene: PRDM5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.113 | PRDM5 | Bryony Thompson Gene: prdm5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.113 | PRDM5 | Bryony Thompson Classified gene: PRDM5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.113 | PRDM5 | Bryony Thompson Gene: prdm5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.112 | PRDM5 |
Bryony Thompson gene: PRDM5 was added gene: PRDM5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM5 were set to 28306229; 21664999 Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, MIM#614170 Review for gene: PRDM5 was set to GREEN Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Homozygous variants identified in at least 7 unrelated confirmed/likely consanguineous brittle cornea syndrome families. The mutation spectrum included stopgain, missense, splice site, and a large deletion. Sources: Expert list |
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