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  2. Fetal anomalies
  3. TM2D3
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Fetal anomalies

Gene: TM2D3

Amber List (moderate evidence)
TM2D3 (TM2 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000184277
EnsemblGeneIds (GRCh37): ENSG00000184277
OMIM: 610014, Gene2Phenotype
TM2D3 is in 4 panels

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

Vicki Harrison (Wessex Clinical Genetics Service)

Green List (high evidence)

1 family HSP founder mutation Israel
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
Neurocardiorenal malformation syndrome, OMIM:621379; neurocardiorenal malformation syndrome, MONDO:0980704

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
  • Neurocardiorenal malformation syndrome, OMIM:621379
  • neurocardiorenal malformation syndrome, MONDO:0980704
OMIM
610014
Clinvar variants
Variants in TM2D3
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: TM2D3 was added gene: TM2D3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TM2D3 were set to 40449487 Phenotypes for gene: TM2D3 were set to Neurocardiorenal malformation syndrome, OMIM:621379; neurocardiorenal malformation syndrome, MONDO:0980704