Fetal anomalies
Gene: TPM2

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

2 reviews

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: Imported from Multiple pterygium syndrome_Fetal akinesia sequence panel version 0.25

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in patients with arthrogryposis as a result of gain of function variants.
Created: 1 Jul 2020, 6:07 a.m. | Last Modified: 1 Jul 2020, 6:07 a.m.

Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis, distal, type 1A/2B4 (MIM#108120)

Publications

Mode of pathogenicity
Other

Created: 1 Jul 2020, 6:07 a.m.
Last Modified: 1 Jul 2020, 6:07 a.m.
Panel version: Imported from Arthrogryposis panel version 0.65

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Literature

Phenotypes

Arthrogryposis multiplex congenita, distal, type 1, 108120
Arthrogryposis, distal, type 2B, 601680
Multiple pterygium syndrome

OMIM

190990

Clinvar variants

Variants in TPM2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene