Congenital myopathy
Gene: CNTN1EnsemblGeneIds (GRCh38): ENSG00000018236
EnsemblGeneIds (GRCh37): ENSG00000018236
OMIM: 600016, Gene2Phenotype
CNTN1 is in 3 panels
6 reviews
Eleanor Williams (Genomics England Curator)
Removing 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
Rhiannon Mellis (Great Ormond Street Hospital)
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
- PMID: 32779773
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
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
Helen Brittain (Genomics England Curator)
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
- PMID 19026398
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, congenital, Compton-North, OMIM:612540
- Tags
- OMIM
- 600016
- Clinvar variants
- Variants in CNTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_NHS_review was removed from gene: CNTN1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNTN1 were set to 19026398
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CNTN1 were set to 19026398; 22818856
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CNTN1 were set to 19026398
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CNTN1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London South GLH was added to CNTN1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
panel promoted to version 1
Helen Brittain (Genomics England Curator)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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540
Set publications
Helen Brittain (Genomics England Curator)Publications for CNTN1 were set to 19026398
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()CNTN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen