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  3. CNBP
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Skeletal muscle channelopathy

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 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 10:36 a.m. | Last Modified: 9 Nov 2021, 10:36 a.m.
Panel Version: 1.33
Created: 9 Nov 2021, 10:36 a.m.
Last Modified: 9 Nov 2021, 10:36 a.m.
Panel version: 1.33

Louise Daugherty (Genomics England Curator)

Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Created: 8 Nov 2019, 3:15 p.m. | Last Modified: 8 Nov 2019, 3:15 p.m.
Panel Version: 0.21
Created: 8 Nov 2019, 3:15 p.m.
Last Modified: 8 Nov 2019, 3:15 p.m.
Panel version: 0.21

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myotonic dystrophy 2, 602668

Publications

  • Suominen et al 2008 J Neurol 255, 1731-6 PMID: 18807109

Created: 25 Oct 2019, 12:31 p.m.
Last Modified: 25 Oct 2019, 12:31 p.m.
Panel version: 0.15

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
nucleotide-repeat-expansion
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2024, Gel status: 1

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag currently-ngs-unreportable was removed from gene: CNBP.

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

24 Nov 2020, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CNBP. Tag currently-ngs-unreportable tag was added to gene: CNBP.

24 Nov 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266

8 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cnbp has been classified as Red List (Low Evidence).

25 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CNBP were changed from to 18807109

25 Oct 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CNBP.

25 Oct 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP

25 Oct 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CNBP. Rating Changed from Red List (low evidence) to Green List (high evidence)

25 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CNBP was added gene: CNBP was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CNBP was set to