Amelogenesis imperfecta
Gene: AMTN

AMTN (amelotin)
EnsemblGeneIds (GRCh38): ENSG00000187689
EnsemblGeneIds (GRCh37): ENSG00000187689
OMIM: 610912, Gene2Phenotype
AMTN is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family, mouse model does not support disease association.
Created: 13 Aug 2021, 1:04 a.m. | Last Modified: 13 Aug 2021, 1:04 a.m.

Panel Version: 0.46

Created: 13 Aug 2021, 1:04 a.m.
Last Modified: 13 Aug 2021, 1:04 a.m.
Panel version: 0.46

Meaghan Wall (Victorian Clinical Genetics Services)

In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype.
Created: 17 Jul 2021, 7:12 a.m. | Last Modified: 17 Jul 2021, 7:13 a.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypomineralised amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB

Publications

Mode of pathogenicity
Other

Created: 17 Jul 2021, 7:12 a.m.
Last Modified: 17 Jul 2021, 7:13 a.m.
Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Amelogenesis imperfecta, type IIIB

OMIM

610912

Clinvar variants

Variants in AMTN

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene