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| Mendeliome v2.91 | SERPINA12 | Zornitza Stark Marked gene: SERPINA12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.91 | SERPINA12 | Zornitza Stark Gene: serpina12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.91 | SERPINA12 | Zornitza Stark Classified gene: SERPINA12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.91 | SERPINA12 | Zornitza Stark Gene: serpina12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.90 | SERPINA12 |
Zornitza Stark gene: SERPINA12 was added gene: SERPINA12 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SERPINA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA12 were set to 40260945; 40138372; 39663865; 39630431; 39034590; 38529670; 38268400; 37684051; 35199331; 32247861 Phenotypes for gene: SERPINA12 were set to Hereditary palmoplantar keratoderma, Gamborg-Nielsen type, MONDO:0009489 Review for gene: SERPINA12 was set to GREEN Added comment: PMID 39630431 reports a single adult‑onset heterozygous frameshift SERPINA12 variant causing non‑punctate palmoplantar keratoderma. Multiple studies (PMID 32247861, PMID 39663865, PMID 35199331, PMID 37684051, PMID 38268400, PMID 38529670, PMID 39034590, PMID 40260945) describe biallelic loss‑of‑function SERPINA12 variants producing hereditary palmoplantar keratoderma, Gamborg‑Nielsen type, with childhood‑onset diffuse hyperkeratosis, hyperhidrosis and related skin features. Functional work includes cell‑line knock‑down, organotypic skin equivalents and minigene splicing assays, but lacks rescue or animal‑model confirmation. Sources: Literature |
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