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Primary immunodeficiency

Gene: CIB1

Amber List (moderate evidence)

CIB1 (calcium and integrin binding 1)
EnsemblGeneIds (GRCh38): ENSG00000185043
EnsemblGeneIds (GRCh37): ENSG00000185043
OMIM: 602293, Gene2Phenotype
CIB1 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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

Eleanor Williams (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Underlying defect of innate immunity, though phenotype is dermatological. 24 individuals from 6 families reported. Part of IUIS classification 2019.
Sources: Expert list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • HPV infections and cancer of the skin
Tags
for-review
OMIM
602293
Clinvar variants
Variants in CIB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cib1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CIB1.

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cib1 has been classified as Green List (High Evidence).

10 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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