Activity
30 Jan 2023
Arthrogryposis v4.5
CNTN1
Eleanor Williams commented on gene: CNTN1
30 Jan 2023
Arthrogryposis v4.5
CNTN1
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
14 Sep 2021
Arthrogryposis v3.122
CNTN1
Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
14 Sep 2021
Arthrogryposis v3.122
CNTN1
Arina Puzriakova Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
14 Sep 2021
Arthrogryposis v3.121
CNTN1
Arina Puzriakova Publications for gene: CNTN1 were set to
14 Sep 2021
Arthrogryposis v3.120
CNTN1
Arina Puzriakova Classified gene: CNTN1 as Amber List (moderate evidence)
14 Sep 2021
Arthrogryposis v3.120
CNTN1
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.
14 Sep 2021
Arthrogryposis v3.120
CNTN1
Arina Puzriakova Gene: cntn1 has been classified as Amber List (Moderate Evidence).
10 Sep 2021
Arthrogryposis v3.119
CNTN1
Rhiannon Mellis reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32779773; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jan 2017
Arthrogryposis
CNTN1
Alice Gardham marked CNTN1 as ready
04 Jan 2017
Arthrogryposis
CNTN1
Alice Gardham reviewed CNTN1