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Arthrogryposis

Gene: TOR1AIP1

Red List (low evidence)

TOR1AIP1 (torsin 1A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: One family (PMID:24856141) supports a Red rating.
Created: 28 Nov 2019, 4:05 p.m. | Last Modified: 28 Nov 2019, 4:05 p.m.
Panel Version: 2.100
Added TOR1AIP1 to panel based on Amber rating on R266 Neuromuscular arthrogryposis panel, and PMID:24856141 2014 paper who report a consanguineous Turkish family with muscle weakness, atrophy and joint contractures in three affected individuals (2 siblings and a cousin). They all had a homozygous variant in TOR1AIP1 (c.186delG causing a premature stop codon). Healthy parents were heterozygous carriers, and allele segregation in the family supported recessive inheritance.
Sources: Literature, Other
Created: 28 Nov 2019, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Literature
Phenotypes
  • joint contractures
  • ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tor1aip1 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature,Other Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 24856141 Phenotypes for gene: TOR1AIP1 were set to joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072