Monogenic short stature
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
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Previous phenotypes (overwritten): pre- and postnatal growth retardation;a typical facial appearance with small head, eyes, and mouth;hypogonadism and reduced fertility;malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii);cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots);hearing loss;and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia, complementation group C, 227645;Fanconi anemia;bone marrow failure;227645 Fanconi anemia, complementation group CCreated: 26 Mar 2024, 3:45 p.m. | Last Modified: 26 Mar 2024, 3:45 p.m.
Panel Version: 3.23
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia; 227645 Fanconi anemia, complementation group C; Fanconi anemia, complementation group C, 227645
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group C, OMIM:227645
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- DDG2P
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Severe microcephaly
- Sarcoma susceptibility
- Intellectual disability
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Childhood solid tumours
- Limb disorders
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Fetal anomalies
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: FANCC was added gene: FANCC was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 16493006; 1574115 Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, OMIM:227645