| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.49 | MBTPS2 | Zornitza Stark Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.49 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.49 | MBTPS2 | Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.49 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.17 | MBTPS2 |
Bryony Thompson gene: MBTPS2 was added gene: MBTPS2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 19361614; 21426410 Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia Review for gene: MBTPS2 was set to GREEN Added comment: Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported. Sources: Expert list |
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