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| Genomic newborn screening: BabyScreen+ v0.1186 | TNFSF11 | Zornitza Stark Marked gene: TNFSF11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1186 | TNFSF11 | Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1186 | TNFSF11 | Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1185 | TNFSF11 | Zornitza Stark Publications for gene: TNFSF11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1184 | TNFSF11 | Zornitza Stark Classified gene: TNFSF11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1184 | TNFSF11 | Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1183 | TNFSF11 |
Zornitza Stark Tag for review tag was added to gene: TNFSF11. Tag skeletal tag was added to gene: TNFSF11. |
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| Genomic newborn screening: BabyScreen+ v0.1183 | TNFSF11 | Zornitza Stark reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1154 | TNFSF11 |
Lilian Downie changed review comment from: Strong gene disease association (gene also known as RANKL) Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia. No treatment; to: Strong gene disease association (gene also known as RANKL) Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia. No treatment |
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| Genomic newborn screening: BabyScreen+ v0.1154 | TNFSF11 | Lilian Downie edited their review of gene: TNFSF11: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1154 | TNFSF11 | Lilian Downie reviewed gene: TNFSF11: Rating: ; Mode of pathogenicity: None; Publications: PMID:17632511, PMID: 36031188, PMID: 32940787; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | TNFSF11 |
Zornitza Stark gene: TNFSF11 was added gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 |
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