| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.80 | POMP | Zornitza Stark Marked gene: POMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.80 | POMP | Zornitza Stark Gene: pomp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.80 | POMP | Zornitza Stark Classified gene: POMP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.80 | POMP | Zornitza Stark Gene: pomp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | POMP |
Ain Roesley gene: POMP was added gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437; 27503413; 29315485 Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952) Penetrance for gene: POMP were set to unknown Review for gene: POMP was set to GREEN Added comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists. PMID: 20226437; Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated) PMID: 27503413; 1x proband from consanguineous parents PMID: 29315485; 1x proband *All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP c.-95del Sources: Literature |
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