1. Panels
  2. Amelogenesis imperfecta
  3. AMELX
STRs in panel
Prev Next
Regions in panel
Prev Next

Amelogenesis imperfecta

Gene: AMELX

Green List (high evidence)
AMELX (amelogenin, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000125363
EnsemblGeneIds (GRCh37): ENSG00000125363
OMIM: 300391, Gene2Phenotype
AMELX is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, some with CNVs.
Created: 11 Aug 2021, 11:47 p.m. | Last Modified: 11 Aug 2021, 11:47 p.m.
Panel Version: 0.7

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, MIM# 301200

Publications

Created: 11 Aug 2021, 11:47 p.m.
Last Modified: 11 Aug 2021, 11:47 p.m.
Panel version: 0.7

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
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200
  • hypomaturation AI with variable hypoplastic foci
  • smooth hypoplastic AI
Tags
SV/CNV
OMIM
300391
Clinvar variants
Variants in AMELX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amelx has been classified as Green List (High Evidence).

11 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: AMELX.

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: AMELX was added gene: AMELX was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode 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) Publications for gene: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698; 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109 Phenotypes for gene: AMELX were set to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta