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| Additional findings_Paediatric v0.2 | ANO5 |
Zornitza Stark Source BabySeq Category C gene was added to ANO5. Source Expert Review Red was added to ANO5. Mode of inheritance for gene ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Gnathodiaphyseal dysplasia for gene: ANO5 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ANO5 | Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2L for gene: ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ANO5 |
Zornitza Stark gene: ANO5 was added gene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L |
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