| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.78 | ELOVL4 | Zornitza Stark Marked gene: ELOVL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.78 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.78 | ELOVL4 | Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.78 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | ELOVL4 |
Naomi Baker gene: ELOVL4 was added gene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956. Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190 Review for gene: ELOVL4 was set to GREEN Added comment: In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956). Sources: Literature |
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