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| Palmoplantar Keratoderma and Erythrokeratoderma v0.84 | NSDHL | Zornitza Stark Marked gene: NSDHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.84 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.84 | NSDHL | Zornitza Stark Classified gene: NSDHL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.84 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | NSDHL |
Ain Roesley gene: NSDHL was added gene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 15689440; 26459993 Phenotypes for gene: NSDHL were set to CHILD syndrome (MIM#308050) Penetrance for gene: NSDHL were set to unknown Review for gene: NSDHL was set to GREEN Added comment: CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects PMID: 15689440;26459993; GeneReviews - Over 20 variants reported. *affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews) *expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews) Sources: Literature |
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