Paroxysmal central nervous system disorders

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

3 reviews

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

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
Other - please specifiy in evaluation comments

Phenotypes
Myotonia; MYOTONIC DYSTROPHY 2 (DM2)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
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
None
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

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 Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CNBP.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CNBP.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CNBP.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Myotonia; MYOTONIC DYSTROPHY 2 (DM2) for gene: CNBP

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CNBP was added gene: CNBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: CNBP was set to Other - please specifiy in evaluation comments Phenotypes for gene: CNBP were set to Myotonia; MYOTONIC DYSTROPHY 2 (DM2)