Cerebral Palsy
Gene: FAM20C
FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic variants (1 stopgain, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Raine syndrome was originally described as a neonatal osteosclerotic bone dysplasia of early and aggressive onset usually resulting in death within the first few weeks of life, however more recently non-lethal cases with a variable spectrum of features including neurological have been described (PMID: 32299476).
Sources: LiteratureCreated: 13 Jun 2024, 4:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM#259775
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Raine syndrome, MIM#259775
- OMIM
- 611061
- Clinvar variants
- Variants in FAM20C
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: FAM20C was added gene: FAM20C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to PMID: 38693247 Phenotypes for gene: FAM20C were set to Raine syndrome, MIM#259775 Review for gene: FAM20C was set to RED