| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ichthyosis v0.41 | GJB2 | Zornitza Stark Marked gene: GJB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.41 | GJB2 | Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.41 | GJB2 | Zornitza Stark Classified gene: GJB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.41 | GJB2 | Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.15 | GJB2 |
Bryony Thompson gene: GJB2 was added gene: GJB2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB2 were set to 11912510 Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210 Review for gene: GJB2 was set to GREEN Added comment: Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||