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Primary immunodeficiency

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Hypogammaglobulinemia has been reported in some cases which is relevant to this panel. However, patients are more likely to be recognised for skeletal muscle features of the disease presentation. Furthermore, the review is relevant to the CCTG repeat expansion rather than small variants (i.e. LoF, missense, etc) in this gene and therefore maintaining the Red rating on this panel.
Created: 24 Nov 2020, 5:01 p.m. | Last Modified: 24 Nov 2020, 5:01 p.m.
Panel Version: 2.378

Boaz Palterer (University of Florence)

Green List (high evidence)

CCTG repeat expansion in intron 1 of the ZNF9/CNBP gene cause Myotonic dystrophy type 2 or Proximal Myotonic Myopathy (PROMM). Hypogammaglobulinemia due to accelerated immunoglobulin catabolism is a major feature of the disease.
Created: 22 Nov 2020, 12:33 p.m. | Last Modified: 22 Nov 2020, 12:33 p.m.
Panel Version: 2.369

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myotonia; muscular dystrophy; cataracts; diabetes; testicular failure; hypogammaglobulinemia; cardiac conduction defects

Publications

Sophie Hambleton (Newcastle University)

Red List (low evidence)

No evident link to immunodeficiency
Created: 11 Jun 2018, 4:14 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel
Created: 12 Jun 2018, 12:27 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ZNF9, PanelApp HGNC gene symbol check: CNBP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Unclassified antibody deficiency / Steinert- myotonica dystrophia
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ESID Registry 20171117
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
Publications
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

24 Nov 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CNBP were set to

24 Nov 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

12 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CNBP was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CNBP was created by Louise Daugherty