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 1.141

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 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 1.6
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 or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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 2.4
Latest signed off version: v2.0 (30 Nov 2022)

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