1. Genes and Genomic Entities
  2. TOR1AIP1

TOR1AIP1

torsin 1A interacting protein 1
OMIM: 614512, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TOR1AIP1 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Green TOR1AIP1 in Congenital myaesthenic syndrome


Level 2: Neurology
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
    • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
    Green TOR1AIP1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.39
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
    • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
    Green TOR1AIP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
    • congenital myasthenic syndrome
    Green TOR1AIP1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.35
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
    Amber TOR1AIP1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
    • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900