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  2. Muscular dystrophy and myopathy_Paediatric
  3. CNTN1
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Muscular dystrophy and myopathy_Paediatric

Gene: CNTN1

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 10926398
single family reported with clinical features consistent with severe lethal myopathy
(age of onset is unknown as only one family has been reported)
Sources: Other
Created: 8 May 2023, 3:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540)

Publications

Created: 8 May 2023, 3:20 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One family with lethal congenital myopathy and a null mouse model with ataxia, progressive muscle weakness, and postnatal lethality, reported in 2008.
Sources: Expert list
Created: 10 Feb 2020, 3:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, Compton-North MIM#612540

Publications

Created: 10 Feb 2020, 3:48 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.
Created: 3 Feb 2020, 11:30 p.m. | Last Modified: 3 Feb 2020, 11:30 p.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, Compton-North 612540

Publications

Created: 3 Feb 2020, 11:30 p.m.
Last Modified: 3 Feb 2020, 11:30 p.m.
Panel version: Imported from Myopathy - paediatric onset panel version Imported from Myopathy panel version 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929
  • MIM#612540)
OMIM
600016
Clinvar variants
Variants in CNTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn1 has been classified as Amber List (Moderate Evidence).

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn1 has been classified as Amber List (Moderate Evidence).

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: CNTN1 was added gene: CNTN1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 10926398 Phenotypes for gene: CNTN1 were set to Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540) Review for gene: CNTN1 was set to AMBER