Arthrogryposis
Gene: CNTN1EnsemblGeneIds (GRCh38): ENSG00000018236
EnsemblGeneIds (GRCh37): ENSG00000018236
OMIM: 600016, Gene2Phenotype
CNTN1 is in 3 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Removed the Q3_21_NHS_review tag as the action (promote from red to amber) has been taken and no further action is needed.Created: 30 Jan 2023, 3:44 p.m. | Last Modified: 30 Jan 2023, 3:44 p.m.
Panel Version: 4.5
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)
A second consanguineous family now reported with lethal congenital myopathy/FADSCreated: 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
- PMID: 32779773
Alice Gardham (Genomics England)
Only reported in one familyCreated: 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
- OMIM
- 600016
- Clinvar variants
- Variants in CNTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_NHS_review was removed from gene: CNTN1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review tag was added to gene: CNTN1.
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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNTN1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cntn1 has been classified as Amber List (Moderate Evidence).
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CNTN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)CNTN1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CNTN1 was added to Arthrogryposispanel. Sources: Expert list