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  3. TOR1AIP1
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Arthrogryposis

Gene: TOR1AIP1

Green List (high evidence)
TOR1AIP1 (torsin 1A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals.
Sources: Literature
Created: 1 Jun 2020, 6:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures

Publications

Created: 1 Jun 2020, 6:30 a.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
  • Progeroid appearance
  • Cataracts
  • Microcephaly
  • Deafness
  • Contractures
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1aip1 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1aip1 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997 Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures Review for gene: TOR1AIP1 was set to GREEN