| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.79 | SDR9C7 | Zornitza Stark Marked gene: SDR9C7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.79 | SDR9C7 | Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.79 | SDR9C7 | Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.79 | SDR9C7 | Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | SDR9C7 |
Ain Roesley gene: SDR9C7 was added gene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 30578701; 31633189 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 (MIM#617574) Penetrance for gene: SDR9C7 were set to unknown Review for gene: SDR9C7 was set to GREEN Added comment: PMID: 30578701; 3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma PMID: 31633189; All 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth Sources: Literature |
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