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| BabyScreen+ newborn screening v0.1710 | MEFV | Zornitza Stark Tag haematological tag was added to gene: MEFV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.667 | MEFV |
Zornitza Stark Tag for review was removed from gene: MEFV. Tag treatable tag was added to gene: MEFV. |
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| BabyScreen+ newborn screening v0.667 | MEFV |
Zornitza Stark changed review comment from: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically? For review.; to: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically? Reviewed: only include bi-allelic disease. |
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| BabyScreen+ newborn screening v0.319 | MEFV | Zornitza Stark Marked gene: MEFV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.319 | MEFV | Zornitza Stark Gene: mefv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.319 | MEFV | Zornitza Stark Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.318 | MEFV | Zornitza Stark Tag for review tag was added to gene: MEFV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.318 | MEFV | Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | MEFV | David Amor reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | MEFV |
Zornitza Stark gene: MEFV was added gene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEFV were set to Mediterranean fever, familial |
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