| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.77 | SPINK5 | Zornitza Stark Marked gene: SPINK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.77 | SPINK5 | Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.77 | SPINK5 | Zornitza Stark Classified gene: SPINK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.77 | SPINK5 | Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | SPINK5 |
Ain Roesley changed review comment from: Ichthyosiform erythroderma is a feature of Netherton syndrome PMID: 11841556; - cohort of 21 families with 26 affecteds (7 consanguineous) - all except 1 presented with scaly erythroderma at birth Sources: Literature; to: Ichthyosiform erythroderma is a feature of Netherton syndrome PMID: 11841556; - cohort of 21 families with 26 affecteds (7 consanguineous) - all except 1 presented with scaly erythroderma at birth Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | SPINK5 |
Ain Roesley gene: SPINK5 was added gene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 11841556 Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500) Penetrance for gene: SPINK5 were set to unknown Review for gene: SPINK5 was set to GREEN Added comment: Ichthyosiform erythroderma is a feature of Netherton syndrome PMID: 11841556; - cohort of 21 families with 26 affecteds (7 consanguineous) - all except 1 presented with scaly erythroderma at birth Sources: Literature |
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