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| Genomic newborn screening: BabyScreen+ v1.144 | RBM20 | Zornitza Stark Marked gene: RBM20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.144 | RBM20 | Zornitza Stark Gene: rbm20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.144 | RBM20 | Zornitza Stark Phenotypes for gene: RBM20 were changed from Cardiomyopathy, dilated, 1DD to Cardiomyopathy, dilated, 1DD, MIM# 613172 AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.143 | RBM20 | Zornitza Stark changed review comment from: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet.; to: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet. Not suitable for gNBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.143 | RBM20 | Zornitza Stark reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1DD, MIM# 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | RBM20 |
Zornitza Stark gene: RBM20 was added gene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD |
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