DDG2P
Gene: TOR1A

TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TOR1A-associated arthrogryposis multiplex congenita (AR) is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 36757831;30244176;33832800;33175450;28516161).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TOR1A-associated arthrogryposis multiplex congenita (AR)

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TOR1A-associated arthrogryposis multiplex congenita (AR)

OMIM

605204

Clinvar variants

Variants in TOR1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TOR1A was added gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831 Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR)

DDG2P Gene: TOR1A