Radial dysplasia
Gene: FANCD2EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:43 a.m.
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
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Fanconi anemia, complementation group D2, 227646
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- 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
- Intellectual disability
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for FANCD2 were set to Fanconi anemia, complementation group D2, 227646
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, complementation group D2 227646
Set publications
Helen Brittain (Genomics England Curator)Publications for FANCD2 were set to 11239454
Upload gene information
Rebecca Foulger (Genomics England curator)FANCD2 was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)FANCD2 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)FANCD2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)FANCD2 was added to Radial dysplasiapanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)FANCD2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing
Created
Rebecca Foulger (Genomics England curator)FANCD2 was created by rfoulger