Congenital anaemias
Gene: FANCD2EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group D2, 227646
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Structural eye disease
- Haematological malignancies for rare disease
- Severe microcephaly
- Ductal plate malformation
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- IUGR and IGF abnormalities
- Fetal anomalies
- Childhood solid tumours
- Pigmentary skin disorders
- Intellectual disability
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()FANCD2 was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()FANCD2 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FANCD2 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services