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  2. Renal Tubulopathies and related disorders
  3. FAM20A
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Renal Tubulopathies and related disorders

Gene: FAM20A

Green List (high evidence)
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, 4:19 a.m. | Last Modified: 12 Aug 2021, 4:19 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Aug 2021, 4:19 a.m.
Last Modified: 12 Aug 2021, 4:19 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
OMIM
611062
Clinvar variants
Variants in FAM20A
Penetrance
None
Publications
Panels with this gene

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: FAM20A was added gene: FAM20A was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20A were set to 24196488; 23697977; 23434854; 23468644; 25827751; 24756937; 21549343; 24259279; 21990045; 26502894 Phenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690