Distal myopathies

Gene: CNBP

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: DM2 is in differential with distal myopathies. DM2 is caused by nucleotide expansions, hence tags for nucleotide expansions and currently not ngs unreportable added
Created: 20 Feb 2017, 12:18 p.m.
Comment on mode of pathogenicity: Caused by the expansion of the CCTG repeat motif in intron 1
Created: 20 Feb 2017, 12:14 p.m.
in differential with distal myopathies
Created: 1 Feb 2017, 11:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 2, 602668

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
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
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 3

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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 4

Set mode of pathogenicity

Arianna Tucci (Genomics England Curator)

Mode of pathogenicity for CNBP was changed to Other - please provide details in the comments

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

1 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

CNBP was added to Distal myopathiespanel. Sources: Expert Review

1 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

CNBP was created by arianna