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| COVID-19 research v1.16 | CIB1 |
Sarah Leigh changed review comment from: 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); to: 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. |
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| COVID-19 research v0.36 | TMC8 |
Ellen McDonagh Mode of inheritance for gene TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HPV (group B1) infections and cancer of the skin (typical EV); Epidermodysplasia verruciformis, 226400; Defects in Intrinsic and Innate Immunity for gene: TMC8 Publications for gene TMC8 were updated from 26621750 to 15356576; 28196644; 12426567; 26997147; 28646613; 26621750 |
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| COVID-19 research v0.27 | TMC8 |
Ellen McDonagh Source Melbourne Genomics Health Alliance Immunology Flagship was added to TMC8. Source Victorian Clinical Genetics Services was added to TMC8. Source Expert Review Green was added to TMC8. Mode of inheritance for gene TMC8 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research | TMC8 | Ellen McDonagh commented on TMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research | TMC8 | Ellen McDonagh added TMC8 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research | TMC8 | Ellen McDonagh reviewed TMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||