Childhood solid tumours
Gene: FANCD2EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group D2, 227646
- Fanconi Anaemia
- Fanconi Anemia
- 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
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FANCD2. Added phenotypes Fanconi Anemia for gene: FANCD2 Publications for gene FANCD2 were changed from to 19686080
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to FANCD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)FANCD2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)FANCD2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)FANCD2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen