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  2. Cardiomyopathy_Paediatric
  3. TPM1
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Cardiomyopathy_Paediatric

Gene: TPM1

Green List (high evidence)
TPM1 (tropomyosin 1)
EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 9 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:44 a.m. | Last Modified: 21 Jun 2020, 6:44 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

Created: 21 Jun 2020, 6:44 a.m.
Last Modified: 21 Jun 2020, 6:44 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well known gene-disease association.
Mechanism not established, but likely gain of function; it's possible that HCM variants are GoF, whilst DCM variants are LoF (PMID: 31270709).
Created: 11 Feb 2020, 1:25 a.m. | Last Modified: 11 Feb 2020, 1:25 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Feb 2020, 12:44 a.m.
Last Modified: 11 Feb 2020, 12:44 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
  • NHS GMS
Phenotypes
  • Left ventricular noncompaction 9,
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, familial hypertrophic, 3
OMIM
191010
Clinvar variants
Variants in TPM1
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM1 was added gene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3