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Congenital myopathy v6.8 SRPK3 Arina Puzriakova Added comment: Comment on list classification: There is no evidence that monogenic variants in this gene cause myopathy. Digenic inheritance is not currently accommodated in tiering. The TTN gene is already included on this panel as Green meaning cases could still be picked up if a TTN variant is present. As this is digenic, this gene has been made Red and tagged 'digenic'.
Congenital myopathy v3.115 TTN Arina Puzriakova Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 to Salih myopathy, OMIM:611705
Congenital myopathy v1.146 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy 611705 to Myopathy, early-onset, with fatal cardiomyopathy, 611705
Congenital myopathy v1.120 TTN Rachael Mein edited their review of gene: TTN: Changed publications: 17444505, 23975875, 28295036; Changed phenotypes: Myopathy, early-onset, with fatal cardiomyopathy 611705
Congenital myopathy v1.76 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 TTN Rachael Mein reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 16924011, 16924011; Phenotypes: Arthrogryposis multiplex congenita, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 TTN Louise Daugherty Source NHS GMS was added to TTN.
Congenital myopathy v1.73 TTN Louise Daugherty Source London South GLH was added to TTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy TTN Anna Sarkozy reviewed TTN
Congenital myopathy TTN Helen Brittain marked TTN as ready
Congenital myopathy TTN Helen Brittain classified TTN as green
Congenital myopathy TTN Helen Brittain reviewed TTN