IUGR and IGF abnormalities
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
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Should be bialleleic autosomalCreated: 23 Oct 2015, 9:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 C, 227645
- Fanconi anemia
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- 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
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
History Filter Activity
14 May 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FANCC 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
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for FANCC was changed to BIALLELIC, autosomal or pseudoautosomal
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)FANCC was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)FANCC was created by PhilMurray