Primary ovarian insufficiency
Gene: FANCAEnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as patients with Fanconi anemia would be expected to be recruited under a different disease category given the syndromic phenotypeCreated: 30 May 2017, 1:28 p.m.
POI can be a feature of Fanconi anemia
Created: 26 May 2017, 10:58 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group A 227650
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Intellectual disability
- Primary ovarian insufficiency
- COVID-19 research
- Structural eye disease
- Monogenic short stature
- Severe microcephaly
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- 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
- DDG2P
- Limb disorders
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Arianna Tucci (Genomics England Curator)FANCA was created by arianna
Added New Source
Arianna Tucci (Genomics England Curator)FANCA was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature