| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.50 | NSDHL | Zornitza Stark Marked gene: NSDHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.50 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.50 | NSDHL | Zornitza Stark Classified gene: NSDHL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.50 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.18 | NSDHL |
Bryony Thompson gene: NSDHL was added gene: NSDHL was added to Ichthyosis. Sources: Expert list 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 10710235; 26459993 Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Congenital hemidysplasia with ichthyosiform nevus and limb defects Review for gene: NSDHL was set to GREEN Added comment: Ichthyosis is a feature of the syndrome. >3 unrelated families/cases have been reported. Sources: Expert list |
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