Defects of intrinsic and innate immunity

Gene: CIB1

Green List (high evidence)

CIB1 (calcium and integrin binding 1)
EnsemblGeneIds (GRCh38): ENSG00000185043
EnsemblGeneIds (GRCh37): ENSG00000185043
OMIM: 602293, Gene2Phenotype
CIB1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

24 individuals from 6 families reported.
Sources: Expert list
Created: 5 Apr 2020, 7:28 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 Green
  • Expert list
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • HPV infections and cancer of the skin
OMIM
602293
Clinvar variants
Variants in CIB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CIB1 was added gene: CIB1 was added to Defects of innate immunity. 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