Amelogenesis imperfecta

Gene: AMELX

Green List (high evidence)

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.

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

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
  • Amelogenesis Imperfecta, Type IE, 301200
  • X-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

History Filter Activity

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

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

25 Jul 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for AMELX were set to Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200; X-linked hypoplastic amelogenesis imperfecta

25 Jul 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for AMELX were set to Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200

25 Jul 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for AMELX were set to 19610109; 23251683; 15111628; 7782077; 1916828; 25117480; 7599636; 1483698; 17189466; 9188994; 11922869; 11839357; 7599636; 22243263; 11201048; 26502894; 28130977; 8406474

25 Jul 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

AMELX was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene AMELX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AMELX was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AMELX was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AMELX was created by rfoulger