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Cardiomyopathies - including childhood onset

Gene: TOR1AIP1

Amber List (moderate evidence)

TOR1AIP1 (torsin 1A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

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, 12:29 p.m. | Last Modified: 3 Dec 2020, 12:29 p.m.
Panel Version: 1.15
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).

Age of onset for cardiomyopathy was variable ranging from childhood to adulthood.

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Note that one additional homozygous case (3-year-old boy) 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, 12:28 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

Details

Mode of Inheritance
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
Tags
for-review
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).

3 Dec 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Cardiomyopathies - including childhood onset. Sources: Literature for-review tags were added to gene: TOR1AIP1. Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 24856141; 27342937; 32055997; 25425325 Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Review for gene: TOR1AIP1 was set to GREEN