Amelogenesis imperfecta

Gene: DLX3

Green List (high evidence)

DLX3 (distal-less homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000064195
EnsemblGeneIds (GRCh37): ENSG00000064195
OMIM: 600525, Gene2Phenotype
DLX3 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment 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.

Rebecca Foulger (Genomics England curator)

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.

Claire Smith (University of Leeds)

Green List (high evidence)

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/DLX3
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • 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
OMIM
600525
Clinvar variants
Variants in DLX3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

15 Jun 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for DLX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Jun 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DLX3 were set to 21252474; 20151948; 26104267; 15666299; 9467018; 23949819

15 Jun 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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);

8 Jun 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

DLX3 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

DLX3 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

DLX3 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DLX3 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DLX3 was created by rfoulger