Primary ovarian insufficiency
Gene: FANCGEnsemblGeneIds (GRCh38): ENSG00000221829
EnsemblGeneIds (GRCh37): ENSG00000221829
OMIM: 602956, Gene2Phenotype
FANCG is in 20 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, 1:29 p.m.
POI can be a feature of Fanconi anemia
Created: 26 May 2017, 10:59 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group G 614082
- OMIM
- 602956
- Clinvar variants
- Variants in FANCG
- 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
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- 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
- Fetal anomalies
- DDG2P
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)FANCG was created by arianna
Added New Source
Arianna Tucci (Genomics England Curator)FANCG was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature