Amelogenesis imperfecta
Gene: DLX3Comment on phenotypes: Adding phenotype of Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic to this gene at suggestion of Dr Susan Parekh (Consultant in Pediatric Dentistry, GOSH)Created: 11 Jun 2019, 10:42 a.m. | Last Modified: 18 Jun 2020, 1:29 p.m.
Panel Version: 2.8
Comment when marking as ready: Marked DLX3 as ready: July 25th 2017.Created: 25 Jul 2017, 12:37 p.m.
Comment on list classification: Kept rating as Green: Green expert review and gene on Leeds diagnostic panel. Listed for prior genetic testing in eligibility statement. Between OMIM and LOVD database, sufficient unrelated cases (>3) to support causation for TDO (which includes enamel hypoplasia) and AI.Created: 25 Jul 2017, 12:37 p.m.
Comment on mode of inheritance: Updated Mode of Inheritance from 'imprinted status unknown' to 'NOT imprinted' based on review from Claire Smith.Created: 15 Jun 2017, 11:20 a.m.
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypoplastic AI, taurodontism and kinky hair especially in childhood as well as other variable features. Both frameshift and missense variants have been identified. See DLX3 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/DLX3Created: 13 Jun 2017, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amelogenesis imperfecta, type IV, 104510; Trichodontoosseous syndrome, 190320
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: DLX3 were changed from Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair to Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
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 DLX3 were set to Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair
Mode of inheritance for DLX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for DLX3 were set to 21252474; 20151948; 26104267; 15666299; 9467018; 23949819
Phenotypes for DLX3 were set to Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia);
DLX3 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services
DLX3 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DLX3 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
DLX3 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing
DLX3 was created by rfoulger