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| Palmoplantar Keratoderma and Erythrokeratoderma v0.112 | TRPM4 | Zornitza Stark Marked gene: TRPM4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.112 | TRPM4 | Zornitza Stark Gene: trpm4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.112 | TRPM4 |
Zornitza Stark gene: TRPM4 was added gene: TRPM4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM4 were set to 30528822 Phenotypes for gene: TRPM4 were set to Erythrokeratodermia variabilis et progressiva 6, MIM# 618531 Review for gene: TRPM4 was set to RED Added comment: Two unrelated families reported with missense variants. Sources: Expert Review |
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