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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 | SYNE1 | Arina Puzriakova commented on gene: SYNE1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.40 | SYNE2 | Sarah Leigh Added comment: Comment on publications: PMID: 19542096 refers only to variants in SYNE1 and so is not relevant to SYNE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 | SYNE1 | Arina Puzriakova commented on gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 | SYNE1 | Arina Puzriakova Mode of inheritance for gene SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |