Fanconi anemia complementation group N
Findings
No curated finding names Fanconi anemia complementation group N yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012565), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Absent thumbHPOHP:0009777
- 1 of 1 reported patient
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 2 of 2 reported patients
- Ectopic kidneyHPOHP:0000086
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 7 of 7 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- MedulloblastomaHPOHP:0002885
- 5 of 7 reported patients
- MicrophthalmiaHPOHP:0000568
Show the remaining 7
- Atrial septal defectHPOHP:0001631
- 1 of 7 reported patients
- Horseshoe kidneyHPOHP:0000085
- 1 of 7 reported patients
- Hyperpigmentation of the skinHPOHP:0000953
- 1 of 7 reported patients
- NeuroblastomaHPOHP:0003006
- 1 of 7 reported patients
- Pelvic kidneyHPOHP:0000125
- 1 of 7 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 7 reported patients
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.
- PALB2HGNC:26144
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
8 names
Resolves to: Fanconi anemia complementation group N
- Also called
- FANCNFanconi anaemia caused by mutation in PALB2Fanconi anaemia complementation group type NFanconi anemia caused by mutation in PALB2Fanconi anemia complementation group type NFanconi Anemia, complementation group type NPALB2 Fanconi anaemiaPALB2 Fanconi anemia