Congenital muscular dystrophy and 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
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Amber
- NHS GMS
- 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
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CNTN1 was added gene: CNTN1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,Radboud University Medical Center, Nijmegen,London South GLH watchlist tags were added to gene: CNTN1. Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 19026398; 32779773 Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540 Penetrance for gene: CNTN1 were set to Complete