Epidermodysplasia verruciformis
Gene: CIB1EnsemblGeneIds (GRCh38): ENSG00000185043
EnsemblGeneIds (GRCh37): ENSG00000185043
OMIM: 602293, Gene2Phenotype
CIB1 is in 5 panels
2 reviews
Catherine Snow (Genomics England)
Publication added which verifies CIB1 as a Green geneCreated: 3 Dec 2019, 1:25 p.m. | Last Modified: 3 Dec 2019, 1:25 p.m.
Panel Version: 0.9
Publications
Rebecca Foulger (Genomics England curator)
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: 29 Jan 2019, 1:21 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Epidermodysplasia verruciformis 3, 618267
- OMIM
- 602293
- Clinvar variants
- Variants in CIB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene: CIB1 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to CIB1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: CIB1 was added gene: CIB1 was added to Epidermodysplasia verruciformis. 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