Fanconi anemia complementation group J
Findings
No curated finding names Fanconi anemia complementation group J yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
Definition from the Mondo Disease Ontology (MONDO:0012187), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Multiple cafe-au-lait spotsHPOHP:0007565
- 8 of 11 reported patients
- MicrophthalmiaHPOHP:0000568
- 4 of 11 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 11 reported patients
- Short thumbHPOHP:0009778
- 3 of 11 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- Global developmental delayHPOHP:0001263
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.
- BRIP1HGNC:20473
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Fanconi anemia complementation group J
- Also called
- FANCJFanconi anaemia complementation group type JFanconi anemia complementation group type JFanconi Anemia, complementation group type J