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
joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
Gene: tor1aip1 has been classified as Red List (Low Evidence).
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