Primary ovarian insufficiency
Gene: FANCC
FANCC (Fanconi anemia complementation group C)
EnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC 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, 1:29 p.m.
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, 10:58 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group C 227645
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Intellectual disability
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Sarcoma susceptibility
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Monogenic short stature
- Limb disorders
- DDG2P
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)FANCC was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)FANCC was created by arianna