Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CNBPComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 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
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
No evident link to immunodeficiencyCreated: 11 Jun 2018, 4:14 p.m.
External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panelCreated: 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 dystrophiaCreated: 17 Apr 2018, 12:29 p.m.
Tag currently-ngs-unreportable was removed from gene: CNBP.
Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Phenotypes for gene: CNBP were changed from Steinert- myotonica dystrophia to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Tag nucleotide-repeat-expansion tag was added to gene: CNBP. Tag currently-ngs-unreportable tag was added to gene: CNBP.
Gene: cnbp has been classified as Red List (Low Evidence).
Publications for gene: CNBP were set to
Mode of inheritance for gene: CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Gene: cnbp has been classified as Red List (Low Evidence).
CNBP was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
CNBP was created by Louise Daugherty