Craniosynostosis
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 with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.
Sources: Expert listCreated: 2 Jul 2020, 10:45 a.m. | Last Modified: 17 Apr 2021, 9:36 a.m.
Panel Version: 1.17
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
- Expert list
- 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
- Skeletal Dysplasia_Fetal
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Amber List (Moderate Evidence).
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 Craniosynostosis. Sources: Expert list Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 19250384 Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775 Review for gene: FAM20C was set to AMBER