xeroderma pigmentosum group G
Findings
No curated finding names xeroderma pigmentosum group G 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 ERCC5 gene.
Definition from the Mondo Disease Ontology (MONDO:0010216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 3 of 3 reported patients
- Defective DNA repair after ultraviolet radiation damageHPOHP:0003079
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- MicrocephalyHPO
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.
- ERCC5HGNC:3437
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: xeroderma pigmentosum group G
- Also called
- ERCC5 xeroderma pigmentosumxeroderma pigmentosum caused by mutation in ERCC5xeroderma pigmentosum group type Gxeroderma pigmentosum, complementation group type Gxeroderma pigmentosum, group Gxeroderma pigmentosum, group G/Cockayne syndromeXP-GXP7XPG