Contact
Site Search
Events & Publications
ClinGen
/ Knowledge Base
Navigation
About ClinGen
About ClinGen
About ClinGen
ClinGen and ClinVar Partnership
ClinGen Curation Activities Overview
ClinGen Directory
ClinGen Policies
ClinGen System Map
Events & Publications
Get Involved
Leadership
Working Groups
Working Groups & Expert Panels
Working Groups
Working Groups & Expert Panels
Actionability
Clinical Domain Working Groups
Copy Number Variant Interpretation Guidelines
Data Model
Dosage Sensitivity Curation
Education, Engagement & Counseling
EHR
CADRe (Consent & Disclosure Recommendations)
External Scientific Panel
Gene Curation
Genomic Variant
Informatics & Analysis
Sequence Variant Inter-Laboratory Discrepancy Resolution
Sequence Variant Interpretation
Software Alignment
Steering Committee
Clinical Domain Working Groups
Cardiovascular CDWG
Hearing Loss CDWG
Hereditary Cancer CDWG
Inborn Errors of Metabolism CDWG
Monogenic Diabetes CDWG
Neurodevelopmental Disorders CDWG
RASopathy CDWG
Gene & Variant Expert Panels
Aminoacidopathy Variant Curation Expert Panel (NICHD U24)
Brain Malformations Variant Curation Expert Panel (NICHD U24)
Breast and Ovarian Cancer Gene Curation Expert Panel
Brugada Syndrome Gene Curation Expert Panel
CDH1 Variant Curation Expert Panel
Colon Cancer and Polyposis Gene Curation Expert Panel
Epilepsy Gene Curation Expert Panel
Familial Hypercholesterolemia Variant Curation Expert Panel
Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel
Fatty Acid Oxidation Variant Curation Expert Panel
Hereditary Hearing Loss Gene Curation Expert Panel
Hereditary Hearing Loss Variant Curation Expert Panel
Hypertrophic Cardiomyopathy Gene Curation Expert Panel
Intellectual Disability/Autism Gene Curation Expert Panel
KCNQ1 Variant Curation Expert Panel
Monogenic Diabetes Gene Curation Expert Panel
Monogenic Diabetes Variant Curation Expert Panel
MYH7 Variant Curation Expert Panel
PAH Variant Curation Expert Panel
PTEN Variant Curation Expert Panel
RASopathy Gene Curation Committee
RASopathy Variant Curation Expert Panel
Somatic/Germline Variant Curation Group
Storage Disease Expert Panel
TP53 Variant Curation Expert Panel
Resources & Tools
Resources
Resources & Tools
Curation Interfaces
Curation Resources
Resources for Labs & Clinicians
GenomeConnect
GenomeConnect
GenomeConnect
GenomeConnect - ClinGen's Patient Portal
About ClinGen
Why Share Genomic Data?
Educational Resources
Webinars
How Do Genes Affect Health?
Tools and Resources
Share Your Data
Share Your Data
Laboratories
Clinicians
Patients and Patient Groups
Curation Activities
Curation Activities
Curation Activities
Gene-Disease Validity
Variant Pathogenicity
Clinical Actionability
Dosage Sensitivity
Curations:
Gene-Disease
Validity
Dosage
Sensitivity
Clinical
Actionability
Contact
ClinGen
Knowledge Base
xeroderma pigmentosum group F
Name
xeroderma pigmentosum group F
Ontological Reference
MONDO:0010215
ClinVar Variants
View ClinVar Variants
External Resources
View external resources
ClinGen's Curation Summaries
External Genomic Resources
ClinVar Variants
ERCC4
- xeroderma pigmentosum group F
| MONDO:0010215
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
11/02/2018
View report