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| BabyScreen+ newborn screening v1.114 | MAFB | Tommy Li Added phenotypes Multicentric carpotarsal osteolysis syndrome (MIM#166300) for gene: MAFB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.257 | MAFB | Zornitza Stark Marked gene: MAFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.257 | MAFB | Zornitza Stark Gene: mafb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.257 | MAFB | Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.256 | MAFB | Zornitza Stark Publications for gene: MAFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.255 | MAFB | Zornitza Stark Tag for review tag was added to gene: MAFB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.255 | MAFB |
Zornitza Stark changed review comment from: Two case reports of successful treatment with cyclosporin. For review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin. For review. |
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| BabyScreen+ newborn screening v0.255 | MAFB | Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | MAFB | David Amor reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome |
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