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Additional findings_Paediatric v0.2 | LMNA |
Zornitza Stark Source BabySeq Category B gene was added to LMNA. Source Expert Review Amber was added to LMNA. Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dilated cardiomyopathy for gene: LMNA Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Additional findings_Paediatric v0.2 | LMNA |
Zornitza Stark Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease for gene: LMNA |
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Additional findings_Paediatric v0.2 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2 |