xeroderma pigmentosum group B
MONDO:0012531Mondo
Findings
No curated finding names xeroderma pigmentosum group B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012531), 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.
- ERCC3HGNC:3435
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
9 names
Resolves to: xeroderma pigmentosum group B
- Also called
- ERCC3 xeroderma pigmentosumxeroderma pigmentosum caused by mutation in ERCC3xeroderma pigmentosum group type Bxeroderma pigmentosum, complementation group type Bxeroderma pigmentosum, group BXP-BXP, Group BXPBXPBC