Amelogenesis imperfecta
Gene: AMELXComment 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.
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/AMELXCreated: 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
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
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
Phenotypes for AMELX were set to Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200; X-linked hypoplastic amelogenesis imperfecta
Phenotypes for AMELX were set to Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200
Publications for AMELX were set to 19610109; 23251683; 15111628; 7782077; 1916828; 25117480; 7599636; 1483698; 17189466; 9188994; 11922869; 11839357; 7599636; 22243263; 11201048; 26502894; 28130977; 8406474
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)
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)
AMELX was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
AMELX was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing
AMELX was created by rfoulger