Congenital myopathy

Gene: CNTN1

Amber List (moderate evidence)

CNTN1 (contactin 1)
EnsemblGeneIds (GRCh38): ENSG00000018236
EnsemblGeneIds (GRCh37): ENSG00000018236
OMIM: 600016, Gene2Phenotype
CNTN1 is in 4 panels

5 reviews

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

A second consanguineous family now reported with lethal congenital myopathy/FADS
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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)

I don't know

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 this
Created: 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)

Red List (low evidence)

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 family
Created: 3 Feb 2017, 11:47 a.m.
Comment on list classification: Only one family identified to date
Created: 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

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
watchlist Q3_21_NHS_review
OMIM
600016
Clinvar variants
Variants in CNTN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: CNTN1.

14 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CNTN1 were set to 19026398

14 Sep 2021, Gel status: 2

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

3 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CNTN1 were set to 19026398; 22818856

3 May 2019, Gel status: 2

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

3 May 2019, Gel status: 2

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

3 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CNTN1 were set to 19026398

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CNTN1.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CNTN1.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Feb 2017, Gel status: 1

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for CNTN1 were set to 19026398

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CNTN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen