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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TPM3

Green List (high evidence)

TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM3 was added gene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)