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Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber was removed from gene: CCDC78.
Tag Q4_22_expert_review was removed from gene: CCDC78.
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.41 CCDC78 Achchuthan Shanmugasundram Source Expert Review Amber was added to CCDC78.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Congenital myopathy v4.26 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: CCDC78.
Congenital myopathy v4.26 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Changed phenotypes to: centronuclear myopathy-4, OMIM:614807
Congenital myopathy v3.27 CCDC78 Arina Puzriakova Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, OMIM:614807
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_MOI tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_expert_review tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v3.1 CCDC78 Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856, 25635128; Phenotypes: centronuclear myopathy-4, MIM# 614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.90 CCDC78 Tracy Lester reviewed gene: CCDC78: Rating: RED; Mode of pathogenicity: None; Publications: 25635128; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 CCDC78 Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.0 CCDC78 Louise Daugherty Tag watchlist was removed from gene: CCDC78.
Congenital myopathy v2.0 CCDC78 Louise Daugherty commented on gene: CCDC78: As a result of watchlist tag audit the watchlist tag was removed from CCDC78- this is now a green gene.
Congenital myopathy v1.225 CCDC78 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
Congenital myopathy v1.224 CCDC78 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
Congenital myopathy v1.224 CCDC78 Louise Daugherty Classified gene: CCDC78 as Green List (high evidence)
Congenital myopathy v1.224 CCDC78 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
Congenital myopathy v1.224 CCDC78 Louise Daugherty Gene: ccdc78 has been classified as Green List (High Evidence).
Congenital myopathy v1.223 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Changed rating: GREEN
Congenital myopathy v1.223 CCDC78 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
Congenital myopathy v1.198 CCDC78 Louise Daugherty commented on gene: CCDC78: Remain Amber unless further evidence supplied by GLH
Congenital myopathy v1.149 CCDC78 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
Congenital myopathy v1.122 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856; 28012042
Congenital myopathy v1.121 CCDC78 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
Congenital myopathy v1.120 CCDC78 Rachael Mein edited their review of gene: CCDC78: Changed publications: 22818856; Changed phenotypes: Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.115 CCDC78 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
Congenital myopathy v1.114 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v1.76 CCDC78 Louise Daugherty reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 CCDC78 Rachael Mein reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 28012042; Phenotypes: Hypokalemic periodic paralyisis type 1, 170400, congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 CCDC78 Louise Daugherty Source NHS GMS was added to CCDC78.
Congenital myopathy v1.73 CCDC78 Louise Daugherty Source London South GLH was added to CCDC78.
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as amber
Congenital myopathy CCDC78 Anna Sarkozy reviewed CCDC78
Congenital myopathy CCDC78 Helen Brittain marked CCDC78 as ready
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as red
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78