Renal Tubulopathies and related disorders
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
2 reviews
Chirag Patel (Genetic Health Queensland)
Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert listCreated: 28 Nov 2022, 6:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert listCreated: 8 Aug 2020, 4:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- MONDO:0009821
- 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
1 Dec 2022, Gel status: 3
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 Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476 Phenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775