Calcium and Phosphate disorders
Gene: FAM20A

FAM20A (FAM20A, golgi associated secretory pathway pseudokinase)
EnsemblGeneIds (GRCh38): ENSG00000108950
EnsemblGeneIds (GRCh37): ENSG00000108950
OMIM: 611062, Gene2Phenotype
FAM20A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life. Multiple families reported.
Created: 12 Aug 2021, 4:22 a.m. | Last Modified: 12 Aug 2021, 4:22 a.m.

Panel Version: 0.31

Phenotypes
Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

Publications

Created: 12 Aug 2021, 4:22 a.m.
Last Modified: 12 Aug 2021, 4:22 a.m.
Panel version: 0.31

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_CalcPhos v38.1.0

Phenotypes

Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

OMIM

611062

Clinvar variants

Variants in FAM20A

Penetrance

None

Publications

Panels with this gene