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| BabyScreen+ newborn screening v1.114 | TNFRSF1A | Tommy Li Added phenotypes Periodic fever, familial MIM#142680 for gene: TNFRSF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1988 | TNFRSF1A | Zornitza Stark Marked gene: TNFRSF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1988 | TNFRSF1A | Zornitza Stark Gene: tnfrsf1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1988 | TNFRSF1A | Zornitza Stark Classified gene: TNFRSF1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1988 | TNFRSF1A | Zornitza Stark Gene: tnfrsf1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1982 | TNFRSF1A |
Lilian Downie gene: TNFRSF1A was added gene: TNFRSF1A was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNFRSF1A were set to PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641 Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial MIM#142680 Penetrance for gene: TNFRSF1A were set to Incomplete Review for gene: TNFRSF1A was set to RED Added comment: Strong gene disease association Childhood onset but age not consistently under 5 and cases of adult onset reports of variable penetrance Rx NSAIDs, corticosteroids, Etanercept , anakinra, canakinumab, tocilizumab because there is no non-molecular confirmatory test I think should be red for variability of age of onset and severity of symptoms. Sources: Expert list |
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