xeroderma pigmentosum group E
MONDO:0010213Mondo
Findings
No curated finding names xeroderma pigmentosum group E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.
Definition from the Mondo Disease Ontology (MONDO:0010213), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DDB2HGNC:2718
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: xeroderma pigmentosum group E
- Also called
- xeroderma pigmentosum group type Exeroderma pigmentosum, complementation group type Exeroderma pigmentosum, group E, DDB-negative subtypeXP-EXP5XPE