TECRL

Chr 4AR

trans-2,3-enoyl-CoA reductase like

Also known as: CPVT3, GPSN2L, SRD5A2L2, TERL

NCBI Gene: 253017ENSG00000205678UniProt: Q5HYJ1OMIM: 617242

The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ventricular tachycardia, catecholaminergic polymorphic, 3MIM #614021
AR

Clinical highlights

Gene-disease validity (ClinGen)
catecholaminergic polymorphic ventricular tachycardia · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TECRL
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.45
OE 0.90 (0.62–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.42Z-score
OE missense 1.09 (0.97–1.22)
197 obs / 181.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.62–1.31)
0≤0.351.4
Missense OE?1.09 (0.97–1.22)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 19 / 21.2Missense obs/exp: 197 / 181.3Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TECRL · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients