Amelogenesis imperfecta
Gene: AMELX

AMELX (amelogenin, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000125363
EnsemblGeneIds (GRCh37): ENSG00000125363
OMIM: 300391, Gene2Phenotype
AMELX is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: AMELX marked as ready: July 25th 2017.
Created: 25 Jul 2017, 8:39 a.m.

Added 'deletions' tag based on review by Claire Smith and deletions associated with amelogenesis imperfecta described by PMID:8406474 and PMID:7782077.
Created: 25 Jul 2017, 8:38 a.m.

Comment on list classification: Updated rating from Amber to Green: Green expert review and on Leeds diagnostic panel. Plus plenty of cases (well over 3) supporting gene:AI relationship. Plus listed for prior genetic testing in eligibility statement.
Created: 25 Jul 2017, 8:37 a.m.

Comment on phenotypes: Incorporated phenotypes from Claire Smith's review, and literature.
Created: 25 Jul 2017, 8:36 a.m.

Comment on mode of inheritance: X-linked dominant MOI supported by OMIM.
Created: 25 Jul 2017, 8:33 a.m.

Created: 25 Jul 2017, 8:38 a.m.

Panel version: 0.48

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Heterozygous mutations in females tend to present as stripes of normal and AI-affected enamel due to lyonisation. The AI phenotype in males is determined by the type and position of the mutation. Large deletions and N-terminal variants cause hypomaturation AI with variable hypoplastic foci. Mutations in the region encoding the signal peptide and toward the C-terminus cause smooth hypoplastic AI. A variety of large deletions, frameshift, nonsense and missense variants have been identified. See AMELX LOVD: http://dna2.leeds.ac.uk/LOVD/genes/AMELX
Created: 21 Jul 2017, 2:56 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Amelogenesis imperfecta, type 1E 301200

Publications

Created: 21 Jul 2017, 2:56 p.m.

Panel version: 0.42

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Amelogenesis imperfecta, type 1E, 301200
iX-linked hypoplastic amelogenesis imperfecta
hypomaturation AI with variable hypoplastic foci
smooth hypoplastic AI

Tags

deletions

OMIM

300391

Clinvar variants

Variants in AMELX

Penetrance

Complete

Publications

Panels with this gene

Amelogenesis imperfecta

History Filter Activity

15 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200; X-linked hypoplastic amelogenesis imperfecta; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI to Amelogenesis imperfecta, type 1E, 301200; iX-linked hypoplastic amelogenesis imperfecta; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

25 Jul 2017, Gel status: 4