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  3. TPM1
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Fetal anomalies

Gene: TPM1

Amber List (moderate evidence)
TPM1 (tropomyosin 1)
EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 8 panels

3 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

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Alice Gardham (North West Thames Genetics)

I don't know

I case of fetal cardiomyopathy in one paper. 2 ith LC non compation and hydrops in another -one with HLH and VSD.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25
This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
cardiomyopathy. One prenatal case -LVH with hydrops. fetal dilatative restrictive cardiomyopathy and hydrops VUS in this and one other gene
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, hypertrophic, 3, OMIM:115196; Left ventricular noncompaction 9; Cardiomyopathy, dilated, 1Y, OMIM:611878; Left ventricular noncompaction 9, OMIM:611878

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Left ventricular noncompaction 9
  • Cardiomyopathy, dilated, 1Y, OMIM:611878
  • Cardiomyopathy, hypertrophic, 3, OMIM:115196
  • Left ventricular noncompaction 9, OMIM:611878
OMIM
191010
Clinvar variants
Variants in TPM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to TPM1. Added phenotypes Cardiomyopathy, hypertrophic, 3, OMIM:115196; Cardiomyopathy, dilated, 1Y, OMIM:611878; Left ventricular noncompaction 9, OMIM:611878 for gene: TPM1 Publications for gene: TPM1 were updated from 33553264 to 40348118; 33553264

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: TPM1 was added gene: TPM1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPM1 were set to 33553264 Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9