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Arthrogryposis

Gene: CNTN1

Red List (low evidence)

CNTN1 (contactin 1)
EnsemblGeneIds (GRCh38): ENSG00000018236
EnsemblGeneIds (GRCh37): ENSG00000018236
OMIM: 600016, Gene2Phenotype
CNTN1 is in 3 panels

1 review

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 Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myopathy, congenital, Compton-North, 612540
OMIM
600016
Clinvar variants
Variants in CNTN1
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTN1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CNTN1 was created by ellenmcdonagh