Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81
Anna Sarkozy changed review comment from: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; to: this can be upgraded to green
Anna Sarkozy edited their review of gene: CCDC78: Added comment: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; Changed rating: AMBER; Set current diagnostic: yes
Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy to Myopathy, centronuclear, 4, 614807
Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy