Skeletal dysplasia
Gene: FAM20C

FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 9:57 p.m. | Last Modified: 25 Mar 2021, 9:57 p.m.

Panel Version: 0.6888

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome, MIM# 259775; MONDO:0009821

Publications

Created: 25 Mar 2021, 9:57 p.m.
Last Modified: 25 Mar 2021, 9:57 p.m.
Panel version: Imported from Mendeliome panel version 0.6888

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Raine syndrome 259775

OMIM

611061

Clinvar variants

Variants in FAM20C

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM20C was added gene: FAM20C was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Raine syndrome 259775

Skeletal dysplasia Gene: FAM20C