Choanal atresia
Gene: FAM20CEnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Osteosclerotic bone dysplasia particularly affecting skull and facial bones, includes choanal stenosis.
The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous.
Well established gene-disease association, multiple families reported.Created: 25 Mar 2021, 9:51 p.m. | Last Modified: 25 Mar 2021, 9:51 p.m.
Panel Version: 0.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775; MONDO:0009821
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Literature
- Phenotypes
-
- Raine syndrome, MIM# 259775
- MONDO:0009821
- OMIM
- 611061
- Clinvar variants
- Variants in FAM20C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Brain Calcification
- BabyScreen+ newborn screening
- Osteopetrosis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Choanal atresia
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Renal Tubulopathies and related disorders
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome, MIM# 259775; MONDO:0009821
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FAM20C were set to 25974638
Added New Source, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Genomics England PanelApp was added to FAM20C. Added phenotypes Raine syndrome 259775 for gene: FAM20C
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM20C was added gene: FAM20C was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 25974638 Phenotypes for gene: FAM20C were set to Raine syndrome 259775