Amelogenesis imperfecta
Gene: ENAM
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Recessive inheritance has been reported, but patients with heterozygous variants in the one family reported with recessive inheritance had disease, just in a different form. ENAM variants are associated with a hypoplastic phenotype. Majority of variants reported to date as nonsense and frameshifts but small in frame deletions and missense variants have also been identified. See ENAM LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ENAMCreated: 13 Jun 2017, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IB 104500; Amelogenesis imperfecta, type IC 204650
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Marked ENAM as ready: July 25th 2017.Created: 25 Jul 2017, 12:43 p.m.
Comment on list classification: Kept rating as Green: Expert green review plus gene on Leeds diagnostic panel. Listed for prior genetic testing in eligibility statement. Plus >3 unrelated cases (OMIM and LOVD) to support disease causation.Created: 25 Jul 2017, 12:43 p.m.
Comment on mode of inheritance: Adjusted MOI to match review from Claire Smith, and include info that homozygotes have a more severe disease form.Created: 15 Jun 2017, 11:52 a.m.
Comment on mode of inheritance: Taken from OMIM: Type IB AI has dominant inheritance, Type IC AI has recessive inheritance.Created: 15 Jun 2017, 11:49 a.m.
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 ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant; autosomal recessive amelogenesis imperfecta
Publications for ENAM were set to 22029166; 22540999; 11978766; 15723871; 25143514; 11487571; 21597265; 17316551; 12407086; 20439930; 16246937; 14684688; 19329462; 25769099; 26502894; 28334996
Phenotypes for ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant
Mode of inheritance for ENAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for ENAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ENAM were set to ; Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant
ENAM was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services
ENAM was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ENAM was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
ENAM was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing
ENAM was created by rfoulger