Amelogenesis imperfecta
Gene: WDR72Comment when marking as ready: Marked as ready: August 16th 2017.Created: 16 Aug 2017, 8:43 a.m.
Comment on list classification: Kept rating as Green: Green expert review and on Leeds diagnostic panel. Plus sufficient (>3) cases to support causation, although no disease yet assigned in DD-G2P.Created: 16 Aug 2017, 8:42 a.m.
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomaturation AI. Variable reports of hypodontia and delayed tooth eruption also depending upon location of variant. Also some reports of an association with short stature, although this is not proven. Nearly all variants are truncating variant likely to be subject to nonsense mediated decay. Only one missense variant has been identified. See WDR72 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/WDR72Created: 21 Jul 2017, 2:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA3 613211
Publications
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 WDR72 were set to Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI
Publications for WDR72 were set to 25008349; 23293580; 20938048; 19853237; 21196691; 26502894; 27259663
WDR72 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services
WDR72 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
WDR72 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
WDR72 was created by rfoulger
WDR72 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing