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Congenital myopathy v3.14 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Congenital myopathy v3.14 CNTN1 Eleanor Williams commented on gene: CNTN1
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v2.57 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Congenital myopathy v2.56 CNTN1 Rhiannon Mellis reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32779773; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.149 CNTN1 Anna Sarkozy edited their review of gene: CNTN1: Added comment: single family reported with CNTN1 variant.; Changed rating: AMBER
Congenital myopathy v1.144 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
Congenital myopathy v1.120 CNTN1 Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.118 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.117 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.116 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v1.76 CNTN1 Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 CNTN1 Rachael Mein reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 CNTN1 Louise Daugherty Source NHS GMS was added to CNTN1.
Congenital myopathy v1.73 CNTN1 Louise Daugherty Source London South GLH was added to CNTN1.
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as amber
Congenital myopathy CNTN1 Anna Sarkozy reviewed CNTN1
Congenital myopathy CNTN1 Helen Brittain marked CNTN1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as red
Congenital myopathy CNTN1 Helen Brittain reviewed CNTN1