Skeletal Muscle Channelopathies
Gene: CNBPEnsemblGeneIds (GRCh38): ENSG00000169714
EnsemblGeneIds (GRCh37): ENSG00000169714
OMIM: 116955, Gene2Phenotype
CNBP is in 7 panels
7 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 10:34 a.m. | Last Modified: 9 Nov 2021, 10:34 a.m.
Panel Version: 1.39
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as currently ngs unreportableCreated: 2 Feb 2017, 3:45 p.m.
Comment when marking as ready: Marked as red as it is currently not ngs unreportableCreated: 2 Feb 2017, 3:44 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30.Created: 11 Jan 2017, 3:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 2
Publications
Alice Gardham (Genomics England)
Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice GardhamCreated: 1 Dec 2016, 4:13 p.m.
Comment on list classification: nucleotide expansion -not currently able to testCreated: 1 Dec 2016, 3:54 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Sourced from OMIM.Created: 10 Jun 2016, 3:04 p.m.
Gene also referred to as ZNF9 - previous symbol.Created: 10 Jun 2016, 2:58 p.m.
This gene is in the genetic muscle channel diseases section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Myotonia and Myotonic Dystrophy: "Genetic anticipation is a prominent feature in many myotonic dystrophy families. If the diagnosis is suspected the first test is a genetic test for DM1 (DMPK). If this is negative then the DM2 gene (CNBP) should be tested. If there is myotonia then a further differential diagnosis is the myotonia and paromyotonia congenitas as discussed below."
Created: 10 Jun 2016, 2:55 p.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
- Tags
- OMIM
- 116955
- Clinvar variants
- Variants in CNBP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag currently-ngs-unreportable was removed from gene: CNBP.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CNBP was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CNBP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CNBP was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing