01 Feb 2023
Congenital myopathy v3.14
CNTN1
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
01 Feb 2023
Congenital myopathy v3.14
CNTN1
Eleanor Williams commented on gene: CNTN1
14 Sep 2021
Congenital myopathy v2.58
CNTN1
Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
14 Sep 2021
Congenital myopathy v2.58
CNTN1
Arina Puzriakova Publications for gene: CNTN1 were set to 19026398
14 Sep 2021
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
10 Sep 2021
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
30 May 2019
Congenital myopathy v1.149
CNTN1
Anna Sarkozy edited their review of gene: CNTN1: Added comment: single family reported with CNTN1 variant.; Changed rating: AMBER
03 May 2019
Congenital myopathy v1.144
CNTN1
Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
03 May 2019
Congenital myopathy v1.120
CNTN1
Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
03 May 2019
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
03 May 2019
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
03 May 2019
Congenital myopathy v1.116
CNTN1
Louise Daugherty Publications for gene: CNTN1 were set to 19026398
30 Apr 2019
Congenital myopathy v1.76
CNTN1
Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Apr 2019
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
30 Apr 2019
Congenital myopathy v1.74
CNTN1
Louise Daugherty Source NHS GMS was added to CNTN1.
30 Apr 2019
Congenital myopathy v1.73
CNTN1
Louise Daugherty Source London South GLH was added to CNTN1.
07 Mar 2017
Congenital myopathy
CNTN1
Helen Brittain classified CNTN1 as amber
06 Mar 2017
Congenital myopathy
CNTN1
Anna Sarkozy reviewed CNTN1
03 Feb 2017
Congenital myopathy
CNTN1
Helen Brittain marked CNTN1 as ready
03 Feb 2017
Congenital myopathy
CNTN1
Helen Brittain classified CNTN1 as red
30 Jan 2017
Congenital myopathy
CNTN1
Helen Brittain reviewed CNTN1