Brain Calcification
Gene: FAM20CEnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Additional patients reported; mouse model recapitulates brain calcification phenotype.Created: 2 May 2023, 6:44 a.m. | Last Modified: 2 May 2023, 6:44 a.m.
Panel Version: 1.61
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775
Publications
Yetong Chen (University of Melbourne)
PMID 27862258 reports 2 patients with compounded FAM20C variants, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of compounded FAM20C variants is reported.
PMID 20825432 reports 2 patients with a homozygous FAM20C variant, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of homozygous FAM20C variants is reported.
Although co-segregation of phenotypes and genotypes is seen, the 4 individuals are related so more evidence is required.
Sources: Expert listCreated: 7 Apr 2023, 2:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Raine syndrome, MIM# 259775
- 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 publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FAM20C were set to 27862258; 20825432; 36914045; 34259997; 32299476; 29341424
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FAM20C were set to 27862258; 20825432
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: FAM20C was added gene: FAM20C was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 27862258; 20825432 Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775 Review for gene: FAM20C was set to RED