Spontaneous coronary artery dissection
Gene: TSR1

TSR1 (TSR1, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000167721
EnsemblGeneIds (GRCh37): ENSG00000167721
OMIM: 611214, Gene2Phenotype
TSR1 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 37979122; listed as "likely monogenic disease effect"

PMID: 31296287 was cited by paper above.
SCAD cohort with WES performed and 'rare' variants filtered for. However, the variants have the following het counts in gnomad v4
Arg772Gln 27 hets 0 homs
Arg622Cys 45 hets 0 homs
Arg497Gln 7125 hets 33 homs
Trp556* absent
Arg499Pro absent
M1fs absent

PMID: 31296288 reviews PMID: 31296287

this gene is NOT constraint for LoF in gnomad v4 with 81 hets having an NMD nonsense hets
Sources: Literature
Created: 28 Jun 2024, 6:51 a.m.

Mode of inheritance
Unknown

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jun 2024, 6:51 a.m.

Panel version: 0.30

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Literature

OMIM

611214

Clinvar variants

Variants in TSR1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tsr1 has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

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