COVID-19 researchGene: CIB1
Mode of inheritance
CIB1 was identified through an OMIM search for potential viral susceptibility genes. Initial triage by Illumina (Alison Coffey and team) was given a Tier 1 grouping (clear GDA/viral susceptibility). "Illumina review: From OMIM: Susceptibility to epidermodysplasia verruciformis-3 is conferred by homozygous variation in the CIB1 gene. Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs. Gene:disease relationship with autosomal recessive epidermodysplasia verruciformis curated using the ClinGen framework for gene curation. The CIB1 gene is located on chromosome 15 at 15q26.1 and encodes calcium and integrin binding 1. This protein forms a complex with the products of the TMC6 (EVER1) and TMC8 (EVER2) genes. The CIB1/EVER1/EVER2 complex acts to restrict transcription of human papillomaviruses. The CIB1 gene was first reported in relation to autosomal recessive epidermodysplasia verruciformis in 2018 (PMID: 300068544). Five unique homozygous variants in this gene were reported in at least five probands including two frameshift, one stop-gained, one stop-lost, and one canonical splice variant. The evidence supporting the GDR includes segregation data - linkage analysis across three unrelated families of differing geographic origin resulted in a LOD score of 16.7. This gene-disease relationship is also supported by expression data and a shared biochemical function with additional genes that are also associated with the disease (PMID: 300068544). In summary, the GDR between CIB1 and autosomal recessive epidermodysplasia verruciformis is classified as strong using the ClinGen framework.
Created: 11 Jun 2020, 6:10 p.m. | Last Modified: 12 Jun 2020, 10:06 a.m.
Panel Version: 1.16
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in unrelated cases.
Created: 29 Apr 2020, 4:04 p.m. | Last Modified: 29 Apr 2020, 4:04 p.m.
Panel Version: 0.166
Created: 27 Apr 2020, 12:03 p.m. | Last Modified: 27 Apr 2020, 12:03 p.m.
Panel Version: 0.163
IUIS: categorised under Epidermodysplasia verruciformis (HPV) section. Inheritance: AR. Affects keratinocytes, which affect EVER1, EVER2 and CIB1 to form a complex in keratinocytes. Associated features are Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV).
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Defects in intrinsic and innate immunity; Epidermodysplasia verruciformis; CIB1 deficiency
Publications for gene: CIB1 were set to 32086639; 32048120
Phenotypes for gene: CIB1 were changed from Epidermodysplasia verruciformis; Defects in intrinsic and innate immunity; CIB1 deficiency to Epidermodysplasia verruciformis 3 618267; Defects in intrinsic and innate immunity; CIB1 deficiency
Source OMIM was added to CIB1.
gene: CIB1 was added gene: CIB1 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB1 were set to 32086639; 32048120 Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis; Defects in intrinsic and innate immunity; CIB1 deficiency