This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- UKGTN
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group D2, 227646
- Fanconi anemia
- Fanconi Anaemia
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Ductal plate malformation
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to Anaemias and red cell disorderspanel. Source: Expert list
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCD2 was created by ellenmcdonagh