1. Panels
  2. Fetal anomalies
  3. DMRT2
Genes in panel
Prev Next

Fetal anomalies

Gene: DMRT2

Amber List (moderate evidence)
DMRT2 (doublesex and mab-3 related transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000173253
EnsemblGeneIds (GRCh37): ENSG00000173253
OMIM: 604935, Gene2Phenotype
DMRT2 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Two unrelated patients with biallelic loss-of-function variants and severe skeletal phenotypes plus consistent mouse model (OMIM 621523). Green on Australian panel.PMID 29681102: Homozygous start loss variant c.1A>T p.(Met1?) in a neonate with severe rib malformations (missing, fused, bifid, and hypoplastic ribs), vertebral malformations (intervertebral fusions of the laminae and irregular ossification of the vertebral bodies), and a mild scoliosis. Severe respiratory insufficiency was present from birth. Prenatally: IUGR, raised NT, kyphoscoliosis, small thoracic cage.PMID 41014130: Homozygous c.129delC p.(Asp43fs*75) variant in neonate with severe costovertebral malformations and dysmorphic features, cleft palate, inguinal hernias, digit and foot anomalies, small muscular VSD, PDA, and bilateral duplicated kidneys. Also thymic aplasia and immunodeficiency. No assessment in pregnancy but severe polyhydramnios noted prior to delivery.PMID 16387292: Dmrt2 mull mice die soon after birth, likely due to abnormal rib and sternal development, leading to an inability to breathe." Flag to panel app that just meets criteria but papers over large range of time and one is a start loss.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023; Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023
  • Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523
OMIM
604935
Clinvar variants
Variants in DMRT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: DMRT2 was added gene: DMRT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRT2 were set to 29681102; 41014130; 16387292 Phenotypes for gene: DMRT2 were set to spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023; Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523