Amelogenesis imperfecta

Gene: ENAM

Green List (high evidence)

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/ENAM

Created: 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

• PMID: 22029166
• 22540999
• 11978766
• 15723871
• 25143514
• 11487571
• 21597265
• 17316551
• 12407086
• 20439930
• 16246937
• 14684688
• 19329462
• 25769099
• 26502894
• 28334996

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.