Congenital myopathy
Gene: CNTN1Removing the Q3_21_NHS_review tag. There are currently only 2 cases so amber is the appropriate rating.Created: 1 Feb 2023, 5:17 p.m. | Last Modified: 1 Feb 2023, 5:17 p.m.
Panel Version: 3.14
A second consanguineous family now reported with lethal congenital myopathy/FADSCreated: 10 Sep 2021, 1:22 p.m. | Last Modified: 10 Sep 2021, 1:22 p.m.
Panel Version: 2.56
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence
Publications
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myopathy, congenital, Compton-North, 612540
Publications
Variants in this GENE are reported as part of current diagnostic practice
single family reported with CNTN1 variant.Created: 30 May 2019, 4:40 p.m.
this is an interesting gene but not sure re strong evidence for thisCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myopathy, congenital, Compton-North, 612540
Publications
Comment on list classification: Expert contacted to see if there are additional cases to the single published to date. Amber and watchlist on current evidence.Created: 7 Mar 2017, 2:39 p.m.
Comment when marking as ready: Insufficient evidence. One familyCreated: 3 Feb 2017, 11:47 a.m.
Comment on list classification: Only one family identified to dateCreated: 3 Feb 2017, 11:47 a.m.
Only one published family to date. Severe myopathy / myasthenic syndrome overlap. Currently insufficient evidence.Created: 30 Jan 2017, 2:46 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.
Publications for gene: CNTN1 were set to 19026398
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 19026398; 22818856
Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Publications for gene: CNTN1 were set to 19026398
Source NHS GMS was added to CNTN1.
Source London South GLH was added to CNTN1.
This gene has been classified as Amber List (Moderate Evidence).
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540
Publications for CNTN1 were set to 19026398
Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
CNTN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen