Skeletal Muscle Channelopathies

Gene: CNBP

Red List (low evidence)

CNBP (CCHC-type zinc finger nucleic acid binding protein)
EnsemblGeneIds (GRCh38): ENSG00000169714
EnsemblGeneIds (GRCh37): ENSG00000169714
OMIM: 116955, Gene2Phenotype
CNBP is in 9 panels

6 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

I don't know

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

I don't know

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as red as currently ngs unreportable
Created: 2 Feb 2017, 3:45 p.m.
Comment when marking as ready: Marked as red as it is currently not ngs unreportable
Created: 2 Feb 2017, 3:44 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

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 Gardham
Created: 1 Dec 2016, 4:13 p.m.
Comment on list classification: nucleotide expansion -not currently able to test
Created: 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 1

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

24 Nov 2020, Gel status: 1

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

22 Feb 2017, Gel status: 1

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.

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CNBP was changed to Other - please specifiy in evaluation comments

1 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CNBP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CNBP was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing