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Arthrogryposis

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.
Created: 14 Sep 2021, 9:52 a.m. | Last Modified: 14 Sep 2021, 9:52 a.m.
Panel Version: 3.120

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, 1:24 p.m. | Last Modified: 10 Sep 2021, 1:24 p.m.
Panel Version: 3.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in one family
Created: 4 Jan 2017, 3:01 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
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myopathy, congenital, Compton-North, OMIM:612540
Tags
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 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

14 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CNTN1 were set to

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

4 Jan 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CNTN1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTN1 was added to Arthrogryposispanel. Sources: Expert list