Cytopenias and congenital anaemias
Gene: FANCD2EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
2 reviews
Helen Brittain (Genomics England Curator)
3 families in OMIM. Biallelic mutationsCreated: 22 Feb 2017, 3:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D2 227646
Publications
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 Review Green
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group D2, 227646
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for FANCD2 were set to Fanconi Anemia; Fanconi anemia, complementation group D2, 227646;
Set publications
Helen Brittain (Genomics England Curator)Publications for FANCD2 were set to 11239454
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)FANCD2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)FANCD2 was created by LouiseD