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Skeletal Dysplasia_Fetal

Gene: FAM20C

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

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Two unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly.
Created: 20 Dec 2021, 3:58 a.m. | Last Modified: 20 Dec 2021, 3:58 a.m.
Panel Version: 0.1469

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome MIM#259775

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Dec 2021, 3:58 a.m.
Last Modified: 20 Dec 2021, 3:58 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1469

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM20C was added gene: FAM20C was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM20C was set to Unknown