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| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | AP1S1 | Zornitza Stark Marked gene: AP1S1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | AP1S1 | Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | AP1S1 | Zornitza Stark Classified gene: AP1S1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | AP1S1 | Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | AP1S1 |
Paul De Fazio gene: AP1S1 was added gene: AP1S1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301 Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313) Review for gene: AP1S1 was set to GREEN gene: AP1S1 was marked as current diagnostic Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD). MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Patients all present with hyperkeratosis. Sources: Literature |
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