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Amelogenesis imperfecta

Gene: FAM20C

Green List (high evidence)
FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 17924334 - 7 families, none described with enamel defects

From OMIM:
- Abnormal teeth (in some patients)
- Natal teeth (in some patients)
- Small teeth (in some patients)
- Enamel dysplasia (in some patients)

PMID: 25928877
Family 1 - 3 siblings with hypoplastic Amelogenesis Imperfecta (AI) (inherited abnormal dental enamel formation)
Family 2 - 2 siblings with hypoplastic AI and tooth dentine abnormalities as part of a more obvious syndrome with facial dysmorphism.

PMID: 24026952
Mouse model teeth of KO mice appeared chalky white compared with those in the WT mice, indicating hypoplastic or hypocalcified enamel
Created: 16 Jun 2021, 12:40 a.m. | Last Modified: 16 Jun 2021, 12:40 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome MIM#259775

Publications

Created: 16 Jun 2021, 12:40 a.m.
Last Modified: 16 Jun 2021, 12:40 a.m.
Panel version: 0.1

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam20c 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: FAM20C were changed from hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775 to Raine syndrome MIM#259775; hypoplastic Amelogenesis Imperfecta

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: FAM20C was added gene: FAM20C was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 24982027; 20825432; 24458843; 20453638; 25928877; 27667191; 23325605; 27862258; 19250384; 17924334; 24039075 Phenotypes for gene: FAM20C were set to hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775