Amelogenesis imperfecta
Gene: FAM20A
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomieralised AI. Distinctive glassy incisors often result from FAM20A mutations. Gingival overgrowth is nearly always also seen. There are a variety of associated oral defects that may include delayed tooth eruption, hyperplastic dental follicles, pulp stones and gingival overgrowth with ectopic calcification. Calcification of other organs, most frequently nephrocalcinosis, is variably reported. This may be due to a combination of age, genetic modifiers, and exposure to Ca2+ channel blocking drugs. Monitoring of kidney function throughout life is necessary. Majority of mutations identified to date are nonsense, frameshift or splicing variants, but missense mutations have also been identified. FAM20A accounts for around 15% of the AI cases reported to date. See FAM20A LOVD: http://dna2.leeds.ac.uk/LOVD/genes/FAM20A
Created: 2 Aug 2017, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Publications
Comment when marking as ready: Marked as ready: August 16th 2017.Created: 16 Aug 2017, 8:47 a.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review and on the Leeds diagnostic panel. Plus confirmed AI gene in DD-G2P. Plus sufficient cases (>3) to support causation.Created: 16 Aug 2017, 8:47 a.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and G2P.Created: 8 Jun 2017, 10:05 a.m.
Confirmed DD-G2P gene for MIM:204690.Created: 8 Jun 2017, 10:05 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 FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690; Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI
Publications for FAM20A were set to 21990045; 24756937; 23697977; 23434854; 24259279; 24196488; 21549343; 23468644; 26502894; 25827751
Mode of inheritance for FAM20A was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690; Amelogenesis Imperfecta, Type IG, 204690
FAM20A was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
FAM20A was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
FAM20A was created by rfoulger
FAM20A was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing