| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ectodermal Dysplasia v0.15 | NFKBIA | Bryony Thompson Marked gene: NFKBIA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.15 | NFKBIA | Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.15 | NFKBIA | Bryony Thompson Classified gene: NFKBIA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.15 | NFKBIA | Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.14 | NFKBIA |
Bryony Thompson gene: NFKBIA was added gene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKBIA were set to 28597146 Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132 Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: NFKBIA was set to GREEN Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream. Sources: Expert list |
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