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Mendeliome v1.733 TNFRSF9 Zornitza Stark Phenotypes for gene: TNFRSF9 were changed from EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection to Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Mendeliome v1.732 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed phenotypes: Immunodeficiency 109 with lymphoproliferation, MIM# 620282, EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1950 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117; 31501153
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to GREEN
Added comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list