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Additional findings_Adult

Gene: TPM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 30 Jul 2020, 10:25 a.m.
Last Modified: 30 Jul 2020, 10:25 a.m.
Panel version: 0.111

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1Y, MIM# 611878
  • Cardiomyopathy, hypertrophic, 3, MIM# 115196
  • Left ventricular noncompaction 9, MIM# 611878
OMIM
191010
Clinvar variants
Variants in TPM1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm1 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM1 was added gene: TPM1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TPM1 was set to Unknown