| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar keratodermas v3.13 | FLG2 |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: FLG2. Tag Q4_23_NHS_review tag was added to gene: FLG2. |
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| Palmoplantar keratodermas v3.13 | FLG2 | Arina Puzriakova Classified gene: FLG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.13 | FLG2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.13 | FLG2 | Arina Puzriakova Gene: flg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.12 | FLG2 | Arina Puzriakova Publications for gene: FLG2 were set to PubMed: 28884927; 29505760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.11 | FLG2 | Arina Puzriakova Phenotypes for gene: FLG2 were changed from peeling skin syndrome-6 (PSS6) (MIM 618084) to Peeling skin syndrome 6, OMIM: 618084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.2 | FLG2 |
Tom Cullup gene: FLG2 was added gene: FLG2 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG2 were set to PubMed: 28884927; 29505760 Phenotypes for gene: FLG2 were set to peeling skin syndrome-6 (PSS6) (MIM 618084) Penetrance for gene: FLG2 were set to unknown Review for gene: FLG2 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list |
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