Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CIB1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:30 p.m. | Last Modified: 20 Oct 2020, 3:30 p.m.
Panel Version: 2.353
Comment on list classification: Promoting this gene from Grey to Green. There are more than 3 cases with plausible disease causing variants.Created: 22 Apr 2020, 2:40 p.m. | Last Modified: 22 Apr 2020, 2:40 p.m.
Panel Version: 2.120
Associated with Epidermodysplasia verruciformis 3 #618267 (AR) in OMIM.
PMID: 30068544 - de Jong et al 2018 - report 6 kindreds with epidermodysplasia verruciformis and homozygous variants in affected individuals in CIB1. No mutations of TMC6 or TMC8. The six families originating from and living in five different countries (Colombia, France, Iran, Switzerland, and Togo). Patients had disseminated β-HPV–positive skin lesions at various sites on the body beginning in childhood or early adulthood. 34 unaffected family members tested were either heterozygous (wt/m) or homozygous for the WT (wt/wt) allele. Variants all predicted to be deleterious (frameshift insertions and deletions, stop loss (P12: p.A184Lfs*70), a nonsense allele, and an essential splice site mutation.Created: 22 Apr 2020, 2:39 p.m. | Last Modified: 22 Apr 2020, 2:39 p.m.
Panel Version: 2.119
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis 3 #618267
Publications
Underlying defect of innate immunity, though phenotype is dermatological. 24 individuals from 6 families reported. Part of IUIS classification 2019.
Sources: Expert listCreated: 10 Apr 2020, 3:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Publications
Tag for-review was removed from gene: CIB1.
Source Expert Review Green was added to CIB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cib1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CIB1.
Gene: cib1 has been classified as Green List (High Evidence).
gene: CIB1 was added gene: CIB1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB1 were set to 30068544 Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin Review for gene: CIB1 was set to GREEN