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| Ectodermal Dysplasia v0.48 | NFKB2 | Bryony Thompson Marked gene: NFKB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.48 | NFKB2 | Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.48 | NFKB2 | Bryony Thompson Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.47 | NFKB2 | Bryony Thompson edited their review of gene: NFKB2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.47 | NFKB2 | Bryony Thompson Classified gene: NFKB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.47 | NFKB2 | Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.46 | NFKB2 |
Bryony Thompson gene: NFKB2 was added gene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKB2 were set to 31417880; 28778864; 27749582 Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577 Review for gene: NFKB2 was set to GREEN Added comment: Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition. Sources: NHS GMS |
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