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| Additional findings_Paediatric v0.2 | WDR36 |
Zornitza Stark gene: WDR36 was added gene: WDR36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WDR36 were set to Glaucoma |
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| Additional findings_Paediatric v0.2 | GLA | Zornitza Stark Added phenotypes Fabry disease for gene: GLA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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