FAM20C Chromosome 7
FAM20C golgi associated secretory pathway kinase
Upload your DNA to see your personal genotypes for variants in FAM20C.
What This Gene Does
This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Golgi associated kinase family
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000177706
Associated Conditions (9)
Lethal osteosclerotic bone dysplasia
Hypophosphataemia or rickets
FAM20C-related disorder
Inborn genetic diseases
Thymoma
Cortical dysplasia
Neonatal death
Severe brain malformation
Abnormal facial shape
Key Variants
RS116181849
Conflicting classifications of pathogenicity
Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
Health Risk
RS148276213
Conflicting classifications of pathogenicity
Lethal osteosclerotic bone dysplasia, Hypophosphataemia or rickets, Lethal osteosclerotic bone dysplasia
Health Risk
RS150808056
Conflicting classifications of pathogenicity
Health Risk
RS190382829
Conflicting classifications of pathogenicity
FAM20C-related disorder, Inborn genetic diseases, FAM20C-related disorder
Health Risk
RS201631664
Conflicting classifications of pathogenicity
Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
Health Risk
RS373614292
Conflicting classifications of pathogenicity
FAM20C-related disorder, FAM20C-related disorder
Health Risk
RS529612835
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS567930512
Conflicting classifications of pathogenicity
Health Risk
RS568534039
Conflicting classifications of pathogenicity
FAM20C-related disorder, FAM20C-related disorder
Health Risk
RS61730252
Conflicting classifications of pathogenicity
Inborn genetic diseases, FAM20C-related disorder, Inborn genetic diseases
Health Risk
RS753843872
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755764751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thymoma, Inborn genetic diseases
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116181849 | Health Risk | Conflicting classifications of pathogenicity | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS148276213 | Health Risk | Conflicting classifications of pathogenicity | Lethal osteosclerotic bone dysplasia, Hypophosphataemia or rickets, Lethal osteosclerotic bone dysplasia |
| RS150808056 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190382829 | Health Risk | Conflicting classifications of pathogenicity | FAM20C-related disorder, Inborn genetic diseases, FAM20C-related disorder |
| RS201631664 | Health Risk | Conflicting classifications of pathogenicity | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS373614292 | Health Risk | Conflicting classifications of pathogenicity | FAM20C-related disorder, FAM20C-related disorder |
| RS529612835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567930512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS568534039 | Health Risk | Conflicting classifications of pathogenicity | FAM20C-related disorder, FAM20C-related disorder |
| RS61730252 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FAM20C-related disorder, Inborn genetic diseases |
| RS753843872 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755764751 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thymoma, Inborn genetic diseases |
| RS763622631 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lethal osteosclerotic bone dysplasia, Inborn genetic diseases |
| RS766106805 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1785701540 | Health Risk | Likely pathogenic | FAM20C-related disorder, FAM20C-related disorder |
| RS2115173146 | Health Risk | Likely pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS2534710256 | Health Risk | Likely pathogenic | FAM20C-related disorder, FAM20C-related disorder |
| RS2534738114 | Health Risk | Likely pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS730882220 | Health Risk | Likely pathogenic | Cortical dysplasia, Neonatal death, Severe brain malformation |
| RS1331889066 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS1461947497 | Health Risk | Pathogenic | FAM20C-related disorder, Lethal osteosclerotic bone dysplasia, FAM20C-related disorder |
| RS1477874798 | Health Risk | Pathogenic | — |
| RS2115034640 | Health Risk | Pathogenic | — |
| RS2115171312 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS2534527251 | Health Risk | Pathogenic | — |
| RS2534710292 | Health Risk | Pathogenic | — |
| RS2534737928 | Health Risk | Pathogenic | — |
| RS267606795 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS545268162 | Health Risk | Pathogenic | — |
| RS796051849 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051851 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051852 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051853 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051854 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051855 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS796051874 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS797044462 | Health Risk | Pathogenic | Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia |
| RS2534735106 | Health Risk | Pathogenic/Likely pathogenic | FAM20C-related disorder, FAM20C-related disorder |