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Facioscapulohumeral muscular dystrophy - extended testing (Version: )

Relevant disorders: R345, GT722, TP629
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adigenic