Arthrogryposis
Gene: TOR1AIP1The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). Joint contractures observed in at least 4/6 families reported to date (when considering 5 kindreds with same founder variant collectively).Created: 3 Dec 2020, 11:59 a.m. | Last Modified: 3 Dec 2020, 11:59 a.m.
Panel Version: 3.27
Associated with relevant phenotype in OMIM, but currently not in Gene2Phenotype.
At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here. Muscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).
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Note that one additional homozygous case has been reported with what is thought to be a discrete phenotype characterised by progressive dystonia, cerebellar atrophy, and dilated cardiomyopathy (PMID: 25425325)Created: 3 Dec 2020, 11:54 a.m. | Last Modified: 3 Dec 2020, 11:54 a.m.
Panel Version: 3.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
Publications
Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals.Created: 3 Jun 2020, 11 a.m. | Last Modified: 3 Jun 2020, 11 a.m.
Panel Version: 3.11
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
Variants in this GENE are reported as part of current diagnostic practice
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, OtherCreated: 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
Tag for-review was removed from gene: TOR1AIP1.
Source Expert Review Green was added to TOR1AIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: TOR1AIP1 were changed from joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Publications for gene: TOR1AIP1 were set to 24856141
Tag for-review tag was added to gene: TOR1AIP1.
Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
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