Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: TOR1AIP1

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 6:57 p.m. | Last Modified: 3 Mar 2022, 6:59 p.m.

Panel Version: 2.35

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).

Created: 3 Dec 2020, 12:18 p.m. | Last Modified: 3 Dec 2020, 12:18 p.m.

Panel Version: 2.12

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 specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. 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)
Sources: Literature

Created: 3 Dec 2020, 12:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900

Publications

• 24856141
• 27342937
• 30723199
• 31299614
• 32055997