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Palmoplantar keratodermas v3.7 | SERPINB8 | Arina Puzriakova Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.6 | SERPINB8 |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SERPINB8. Tag Q4_23_NHS_review tag was added to gene: SERPINB8. |
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Palmoplantar keratodermas v3.6 | SERPINB8 | Arina Puzriakova Classified gene: SERPINB8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.6 | SERPINB8 | 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. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.6 | SERPINB8 | Arina Puzriakova Gene: serpinb8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.2 | SERPINB8 |
Tom Cullup gene: SERPINB8 was added gene: SERPINB8 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to PubMed: 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 Penetrance for gene: SERPINB8 were set to unknown Review for gene: SERPINB8 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list |