IUGR and IGF abnormalities
Gene: FANCA
FANCA (Fanconi anemia complementation group A)
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert review
- Expert Review Green
- Phenotypes
-
- pre- and postnatal growth retardation
- malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
- a typical facial appearance with small head, eyes, and mouth
- hearing loss
- hypogonadism and reduced fertility
- cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
- bone marrow failure
- and susceptibility to cancer, predominantly acute myeloid leukemia.
- Fanconi Anemia
- Fanconi anemia, complementation group A, 227650
- Fanconi anemia
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Severe microcephaly
- Primary ovarian insufficiency
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Structural eye disease
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- 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
- Intellectual disability
- DDG2P
History Filter Activity
14 May 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to IUGR and IGF abnormalitiespanel. Source: Expert review
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)FANCA was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)FANCA was created by PhilMurray