CIB1

calcium and integrin binding 1
OMIM: 602293, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CIB1 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • OMIM
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • Defects in intrinsic and innate immunity
  • CIB1 deficiency

Green CIB1 in Pigmentary skin disorders


Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
  • Epidermodysplasia verruciformis 3, 618267
  • EV3

Green CIB1 in Epidermodysplasia verruciformis


Version 1.4
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267

Green CIB1 in Primary immunodeficiency


Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • HPV infections and cancer of the skin

No list CIB1 in Multiple monogenic benign skin tumours


Version 1.20
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267
Tags
  • curated_removed