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  3. TPM2
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Multiple pterygium syndrome_Fetal akinesia sequence

Gene: TPM2

Green List (high evidence)
TPM2 (tropomyosin 2)
EnsemblGeneIds (GRCh38): ENSG00000198467
EnsemblGeneIds (GRCh37): ENSG00000198467
OMIM: 190990, Gene2Phenotype
TPM2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants: three unrelated individuals reported with more severe multiple pterygium phenotype and recurrent missense, demonstrated de novo in two PMID 32092148.

PMID 33558124: fetus with multiple pterygium syndrome and homozygous canonical splice site variant. This is the second report of bi-allelic disease, the previously reported individual presented with congenital myopathy.
Sources: Literature
Created: 13 Jun 2021, 7:56 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome

Publications

Created: 13 Jun 2021, 7:56 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple pterygium syndrome
OMIM
190990
Clinvar variants
Variants in TPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm2 has been classified as Green List (High Evidence).

13 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm2 has been classified as Green List (High Evidence).

13 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM2 was added gene: TPM2 was added to Multiple pterygium syndrome. Sources: Literature Mode of inheritance for gene: TPM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPM2 were set to 33558124; 32092148 Phenotypes for gene: TPM2 were set to Multiple pterygium syndrome Review for gene: TPM2 was set to GREEN