IUGR and IGF abnormalities
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Included on the non-fanconi panel, to be included on this panel as green.Created: 7 Jun 2016, 12:31 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert review
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group D2, 227646
- Fanconi anemia
- 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
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCD2 was added to IUGR and IGF abnormalitiespanel. Sources: Expert review
14 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCD2 was created by ellenmcdonagh