| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis and erythrokeratoderma v3.11 | CSTA |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CSTA. Tag Q4_23_NHS_review tag was added to gene: CSTA. |
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| Ichthyosis and erythrokeratoderma v3.11 | CSTA | Arina Puzriakova Classified gene: CSTA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.11 | CSTA | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.11 | CSTA | Arina Puzriakova Gene: csta has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.10 | CSTA | Arina Puzriakova Phenotypes for gene: CSTA were changed from peeling skin syndrome-4 (PSS4) to Peeling skin syndrome 4, OMIM:607936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.3 | CSTA |
Tom Cullup gene: CSTA was added gene: CSTA was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 21944047; 23534700 Phenotypes for gene: CSTA were set to peeling skin syndrome-4 (PSS4) Penetrance for gene: CSTA were set to unknown Review for gene: CSTA was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list |
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