TELO2

Chr 16AR

telomere maintenance 2

Also known as: CLK2, TEL2, YHFS

NCBI Gene: 9894ENSG00000100726UniProt: Q9Y4R8OMIM: 611140

This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

You-Hoover-Fong syndromeMIM #616954
AR

Clinical highlights

Gene-disease validity (ClinGen)
TELO2-related intellectual disability-neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.93
OE 0.67 (0.49–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.37Z-score
OE missense 1.04 (0.97–1.12)
568 obs / 543.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.49–0.93)
0≤0.351.4
Missense OE?1.04 (0.97–1.12)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 27 / 40.2Missense obs/exp: 568 / 543.9Syn Z: -1.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TELO2 · 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