Arthrogryposis
Gene: TPM2EnsemblGeneIds (GRCh38): ENSG00000198467
EnsemblGeneIds (GRCh37): ENSG00000198467
OMIM: 190990, Gene2Phenotype
TPM2 is in 7 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Arthrogryposis, distal, type 1A/2B4 (MIM#108120)
- OMIM
- 190990
- Clinvar variants
- Variants in TPM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tpm2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TPM2 were changed from to Arthrogryposis, distal, type 1A/2B4 (MIM#108120)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TPM2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TPM2 was added gene: TPM2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TPM2 was set to Unknown