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Additional findings_Paediatric v0.190 | MPZL2 |
Lilian Downie gene: MPZL2 was added gene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145 Review for gene: MPZL2 was set to GREEN Added comment: From deafness_isolated Sources: Expert list |
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Additional findings_Paediatric v0.2 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease |