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Arthrogryposis v4.5 CNTN1 Eleanor Williams commented on gene: CNTN1
Arthrogryposis v4.5 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Arthrogryposis v3.122 CNTN1 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
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
Arthrogryposis v3.121 CNTN1 Arina Puzriakova Publications for gene: CNTN1 were set to
Arthrogryposis v3.120 CNTN1 Arina Puzriakova Classified gene: CNTN1 as Amber List (moderate evidence)
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.
Arthrogryposis v3.120 CNTN1 Arina Puzriakova Gene: cntn1 has been classified as Amber List (Moderate Evidence).
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
Arthrogryposis CNTN1 Alice Gardham marked CNTN1 as ready
Arthrogryposis CNTN1 Alice Gardham reviewed CNTN1