Arthrogryposis
Gene: CNTN1Removed the Q3_21_NHS_review tag as the action (promote from red to amber) has been taken and no further action is needed.Created: 30 Jan 2023, 3:44 p.m. | Last Modified: 30 Jan 2023, 3:44 p.m.
Panel Version: 4.5
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.Created: 14 Sep 2021, 9:52 a.m. | Last Modified: 14 Sep 2021, 9:52 a.m.
Panel Version: 3.120
A second consanguineous family now reported with lethal congenital myopathy/FADSCreated: 10 Sep 2021, 1:24 p.m. | Last Modified: 10 Sep 2021, 1:24 p.m.
Panel Version: 3.119
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Only reported in one familyCreated: 4 Jan 2017, 3:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myopathy, congenital, Compton-North 612540
Publications
Tag Q3_21_NHS_review was removed from gene: CNTN1.
Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Publications for gene: CNTN1 were set to
Gene: cntn1 has been classified as Amber List (Moderate Evidence).
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal
CNTN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
CNTN1 was created by ellenmcdonagh
CNTN1 was added to Arthrogryposispanel. Sources: Expert list