Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: CNBP

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: 2.485

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

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

• 12601109

Red List (low evidence)

No evident link to immunodeficiency

Created: 11 Jun 2018, 4:14 p.m.

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.