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| BabyScreen+ newborn screening v0.1479 | RAPSN | Zornitza Stark Marked gene: RAPSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1479 | RAPSN | Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1479 | RAPSN | Zornitza Stark Phenotypes for gene: RAPSN were changed from Congenital myasthenic syndrome, MIM#616326 to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1478 | RAPSN |
Zornitza Stark Tag treatable tag was added to gene: RAPSN. Tag neurological tag was added to gene: RAPSN. |
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| BabyScreen+ newborn screening v0.1478 | RAPSN | Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | RAPSN |
Zornitza Stark gene: RAPSN was added gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326 |
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