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| BabyScreen+ newborn screening v1.114 | F11 | Tommy Li Added phenotypes Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416 for gene: F11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | TNFSF11 |
Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 2 MIM#259710 for gene: TNFSF11 Publications for gene TNFSF11 were updated from 17632511; 36031188; 32940787 to 17632511; 32940787; 36031188 |
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| BabyScreen+ newborn screening v1.114 | TNFRSF11B |
Tommy Li Added phenotypes Paget disease of bone 5, juvenile-onset MIM#239000 for gene: TNFRSF11B Publications for gene TNFRSF11B were updated from 25108083; 34166796; 29080812 to 34166796; 25108083; 29080812 |
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| BabyScreen+ newborn screening v1.114 | TNFRSF11A |
Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 for gene: TNFRSF11A Publications for gene TNFRSF11A were updated from 36031188; 35812760 to 35812760; 36031188 |
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| BabyScreen+ newborn screening v0.1825 | PMM2 |
Zornitza Stark changed review comment from: Well established gene-disease association. Two clinical presentations - solely neurologic form and a neurologic-multivisceral form Mortality approximately 20% in first 2 years Treatment: epalrestat PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations. For review: uncertain if in use for CDG; to: Well established gene-disease association. Two clinical presentations - solely neurologic form and a neurologic-multivisceral form Mortality approximately 20% in first 2 years Treatment: epalrestat PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations. Treatment not well established in patients. |
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| BabyScreen+ newborn screening v0.1691 | F11 | Zornitza Stark Marked gene: F11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1691 | F11 | Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1691 | F11 | Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1690 | F11 | Zornitza Stark Mode of inheritance for gene: F11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1689 | F11 | Zornitza Stark Classified gene: F11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1689 | F11 | Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1688 | F11 | Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1190 | TNFRSF11A | Zornitza Stark Marked gene: TNFRSF11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1190 | TNFRSF11A | Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1190 | TNFRSF11A | Zornitza Stark Publications for gene: TNFRSF11A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1189 | TNFRSF11A |
Zornitza Stark Tag treatable tag was added to gene: TNFRSF11A. Tag skeletal tag was added to gene: TNFRSF11A. |
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| BabyScreen+ newborn screening v0.1189 | TNFRSF11B | Zornitza Stark Marked gene: TNFRSF11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1189 | TNFRSF11B | Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1189 | TNFRSF11B | Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease to Paget disease of bone 5, juvenile-onset MIM#239000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1188 | TNFRSF11B | Zornitza Stark Publications for gene: TNFRSF11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1187 | TNFRSF11B | Zornitza Stark Classified gene: TNFRSF11B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1187 | TNFRSF11B | Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1186 | TNFRSF11B |
Zornitza Stark Tag for review tag was added to gene: TNFRSF11B. Tag skeletal tag was added to gene: TNFRSF11B. |
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| BabyScreen+ newborn screening v0.1186 | TNFSF11 | Zornitza Stark Marked gene: TNFSF11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1186 | TNFSF11 | Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1186 | TNFSF11 | Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1185 | TNFSF11 | Zornitza Stark Publications for gene: TNFSF11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1184 | TNFSF11 | Zornitza Stark Classified gene: TNFSF11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1184 | TNFSF11 | Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1154 | TNFRSF11A | Lilian Downie edited their review of gene: TNFRSF11A: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1154 | TNFRSF11A | Lilian Downie reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1154 | TNFRSF11B | Lilian Downie reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25108083, PMID: 34166796, PMID: 29080812; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1154 | TNFSF11 | Lilian Downie edited their review of gene: TNFSF11: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening v0.0 | TNFRSF11B |
Zornitza Stark gene: TNFRSF11B was added gene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease |
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| BabyScreen+ newborn screening v0.0 | TNFRSF11A |
Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301 |
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| BabyScreen+ newborn screening v0.0 | F11 |
Zornitza Stark gene: F11 was added gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F11 were set to Factor XI deficiency |
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