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Amelogenesis imperfecta

Gene: FAM83H

Green List (high evidence)
FAM83H (family with sequence similarity 83 member H)
EnsemblGeneIds (GRCh38): ENSG00000180921
EnsemblGeneIds (GRCh37): ENSG00000180921
OMIM: 611927, Gene2Phenotype
FAM83H is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 19407157 - 7 families w/ AD hypocalcified amelogenesis imperfecta (ADHCAI) and PTCs that evade NMD (DN mechanism suspected). Two families had a unique ADHCAI phenotype, with the affected enamel being localized to the cervical 1/3 of the teeth in most affected individuals.
Created: 16 Jun 2021, 12:46 a.m. | Last Modified: 16 Jun 2021, 12:46 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amelogenesis imperfecta, type IIIA MIM#130900

Publications

Mode of pathogenicity
Other

Created: 16 Jun 2021, 12:46 a.m.
Last Modified: 16 Jun 2021, 12:46 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIA MIM#130900
OMIM
611927
Clinvar variants
Variants in FAM83H
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
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: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam83h 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: FAM83H were changed from Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI to Amelogenesis imperfecta, type IIIA MIM#130900

7 May 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM83H was added gene: FAM83H was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FAM83H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361 Phenotypes for gene: FAM83H were set to Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI Mode of pathogenicity for gene: FAM83H was set to Other - please provide details in the comments