| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v1.59 | F13B | Zornitza Stark Marked gene: F13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.59 | F13B | Zornitza Stark Gene: f13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.59 | F13B | Zornitza Stark Phenotypes for gene: F13B were changed from Factor XIIIB deficiency MIM# 613235; Factor XIIIB deficiency, MIM# 613235 to Factor XIIIB deficiency, MIM#613235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.58 | F13B | Zornitza Stark Classified gene: F13B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.58 | F13B | Zornitza Stark Gene: f13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.57 | F13B |
Zornitza Stark Tag treatable tag was added to gene: F13B. Tag haematological tag was added to gene: F13B. |
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| BabyScreen+ newborn screening v1.57 | F13B | Zornitza Stark reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2054 | TNFRSF13B | Zornitza Stark Marked gene: TNFRSF13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2054 | TNFRSF13B | Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2054 | TNFRSF13B | Zornitza Stark Classified gene: TNFRSF13B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2054 | TNFRSF13B | Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2053 | TNFRSF13B |
Zornitza Stark Tag treatable tag was added to gene: TNFRSF13B. Tag immunological tag was added to gene: TNFRSF13B. |
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| BabyScreen+ newborn screening v0.2052 | TNFRSF13B |
Lilian Downie gene: TNFRSF13B was added gene: TNFRSF13B was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to PMID: 31681716, PMID: 18981294 Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2 MIM#240500 Review for gene: TNFRSF13B was set to RED Added comment: hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal tract infections. Serum IgG and IgA were low, and serum antibody response to immunization with pneumococcal vaccine was decreased, although T cell-dependent response to tetanus toxin was normal. I think the age of onset is too variable . Rx immunoglobulin Sources: Expert list |
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| BabyScreen+ newborn screening v0.0 | F13B |
Zornitza Stark Source Expert list was added to F13B. Source Expert Review Red was added to F13B. Added phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B Publications for gene F13B were updated from to PMID: 31013569 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | F13B |
Zornitza Stark gene: F13B was added gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235 |
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