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| Additional findings_Paediatric v0.2 | RPGRIP1L | Zornitza Stark Added phenotypes Joubert syndrome for gene: RPGRIP1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Meckel syndrome |
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| Additional findings_Paediatric v0.2 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Retinitis pigmentosa |
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