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Additional findings_Paediatric v0.2 | FHL1 |
Zornitza Stark Source BabySeq Category C gene was added to FHL1. Source Expert Review Red was added to FHL1. Added phenotypes Myofibrillar myopathy for gene: FHL1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Additional findings_Paediatric v0.2 | FHL1 | Zornitza Stark Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy |