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  3. FAM20A
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Amelogenesis imperfecta

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 21990045 - 9 families with chet or hom PTCs with hypoplastic enamel and gingival hyperplasia
Created: 16 Jun 2021, 12:17 a.m. | Last Modified: 16 Jun 2021, 12:17 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 Jun 2021, 12:17 a.m.
Last Modified: 16 Jun 2021, 12:17 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam20a has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAM20A were changed from Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

7 May 2021, 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 Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045 Phenotypes for gene: FAM20A were set to Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690