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Palmoplantar Keratoderma and Erythrokeratoderma v0.32 | KANK2 | Zornitza Stark Marked gene: KANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 | KANK2 | Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 | KANK2 | Zornitza Stark Tag founder tag was added to gene: KANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 | KANK2 | Zornitza Stark Classified gene: KANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 | KANK2 | Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 | KANK2 |
Ain Roesley changed review comment from: PMID: 24671081; - 2 consanguineous families both Arabs and from the same region - palmoplantar keratoderma and woolly hair, without cardiomyopath > same p.(Ala670Val) missense *no additional reports in pubmed Sources: Literature; to: PMID: 24671081; - 2 consanguineous families both Arabs and from the same region - palmoplantar keratoderma and woolly hair, without cardiomyopath > same p.(Ala670Val) missense *caution: disease association doesnt have ? in OMIM *no additional reports in pubmed Sources: Literature |
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Palmoplantar Keratoderma and Erythrokeratoderma v0.8 | KANK2 |
Ain Roesley gene: KANK2 was added gene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK2 were set to 24671081 Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma and woolly hair (MIM#616099) Penetrance for gene: KANK2 were set to unknown Review for gene: KANK2 was set to RED Added comment: PMID: 24671081; - 2 consanguineous families both Arabs and from the same region - palmoplantar keratoderma and woolly hair, without cardiomyopath > same p.(Ala670Val) missense *no additional reports in pubmed Sources: Literature |