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| Palmoplantar Keratoderma and Erythrokeratoderma v0.65 | TGM1 | Zornitza Stark Marked gene: TGM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.65 | TGM1 | Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.65 | TGM1 | Zornitza Stark Classified gene: TGM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.65 | TGM1 | Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | TGM1 |
Ain Roesley gene: TGM1 was added gene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM1 were set to 19890349; 24261627; 30302839 Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) Penetrance for gene: TGM1 were set to unknown Review for gene: TGM1 was set to GREEN Added comment: PMID: 19890349; - 1x patient with mild palmoplantar keratoderma in her fissures > cHet for c.877-2A>G and p.(Arg307Gly) PMID: 24261627; - 11x Ecuadorian patients - All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia > both missense and PTVs reported PMID: 30302839; - 1x Japanese man with severe lamellar ichthyosis - his other clinical findings include palmoplantar keratoderma > cHet for 2 missense Sources: Literature |
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