Activity
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5 actions
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| Ichthyosis v0.58 | SPINK5 | Zornitza Stark Marked gene: SPINK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.58 | SPINK5 | Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.58 | SPINK5 | Zornitza Stark Classified gene: SPINK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.58 | SPINK5 | Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.27 | SPINK5 |
Bryony Thompson gene: SPINK5 was added gene: SPINK5 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 10712206; 15590704; 31977080 Phenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500 Review for gene: SPINK5 was set to GREEN Added comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype. Sources: Expert list |
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