This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: FANCD2
FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Fanconi anemia
- Tolerance and repair of DNA crosslinks and other adducts in DNA: target for monoubiquitination
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Structural eye disease
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Ductal plate malformation
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: added new-gene-name tag. C19or
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCD2 was created by ellenmcdonagh