Paediatric or syndromic cardiomyopathy
Gene: TOR1AIP1EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 6 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."Created: 3 Mar 2022, 10:56 a.m. | Last Modified: 3 Mar 2022, 10:56 a.m.
Panel Version: 1.63
After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135.Created: 3 Mar 2022, 10:56 a.m. | Last Modified: 3 Mar 2022, 10:56 a.m.
Panel Version: 1.63
Arina Puzriakova (Genomics England Curator)
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: LiteratureCreated: 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
- OMIM
- 614512
- Clinvar variants
- Variants in TOR1AIP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: TOR1AIP1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
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