| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hand and foot malformations v0.40 | PHF6 | Bryony Thompson Marked gene: PHF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.40 | PHF6 | Bryony Thompson Gene: phf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.40 | PHF6 | Bryony Thompson Publications for gene: PHF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.39 | PHF6 | Bryony Thompson Mode of inheritance for gene: PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.38 | PHF6 | Bryony Thompson Classified gene: PHF6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.38 | PHF6 | Bryony Thompson Gene: phf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.37 | PHF6 | Bryony Thompson edited their review of gene: PHF6: Changed rating: GREEN; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.37 | PHF6 | Bryony Thompson reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 19161141, 24092917, 12415272; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.0 | PHF6 |
Bryony Thompson gene: PHF6 was added gene: PHF6 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900 |
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