Pigmentary skin disorders

Gene: CIB1

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CIB1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
  • Epidermodysplasia verruciformis 3, 618267
  • EV3
OMIM
602293
Clinvar variants
Variants in CIB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 for gene: CIB1 Publications for gene CIB1 were changed from to 30068544

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CIB1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CIB1 was added gene: CIB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267