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| BabyScreen+ newborn screening v1.114 | NFKBIA | Tommy Li Added phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 for gene: NFKBIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2039 | NFKBIA | Zornitza Stark Marked gene: NFKBIA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2039 | NFKBIA | Zornitza Stark Gene: nfkbia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2039 | NFKBIA | Zornitza Stark Classified gene: NFKBIA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2039 | NFKBIA | Zornitza Stark Gene: nfkbia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2038 | NFKBIA |
Zornitza Stark gene: NFKBIA was added gene: NFKBIA was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: NFKBIA. Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Review for gene: NFKBIA was set to GREEN Added comment: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual). Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity. The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands). Onset is generally in infancy. Treatment: BMT. Non-genetic confirmatory testing: no Sources: Expert list |
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