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Fetal anomalies

Gene: DLX3

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Red List (low evidence)

Green on skeletal dysplasias panel at >3 cases with postnatal presentation of Amelogenesis imperfecta and TDO (kinky hair, enamel hypoplasia, skull and jaw bones thickening, and sclerosis). No prenatal phenotype reported.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Trichodontoosseous syndrome, MIM#190320; Amelogenesis imperfecta, type IV, MIM#104510

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Amelogenesis imperfecta, type IV, OMIM:104510
  • Trichodontoosseous syndrome, OMIM:190320
OMIM
600525
Clinvar variants
Variants in DLX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DLX3 was added gene: DLX3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLX3 were set to 26104267; 26762616 Phenotypes for gene: DLX3 were set to Amelogenesis imperfecta, type IV, OMIM:104510; Trichodontoosseous syndrome, OMIM:190320