SLITRK6

Chr 13AR

SLIT and NTRK like family member 6

This protein regulates neurite outgrowth and is required for normal hearing and vision. Mutations cause autosomal recessive deafness and myopia, affecting both auditory and visual systems. The gene shows strong constraint against loss-of-function variants (pLI near 1), indicating intolerance to complete protein loss.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.271 OMIM phenotype
Clinical SummarySLITRK6
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Gene-Disease Validity (ClinGen)
high myopia-sensorineural deafness syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.000
Z-score 0.51
OE 0.89 (0.631.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.38Z-score
OE missense 1.05 (0.971.14)
456 obs / 433.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.89 (0.631.27)
00.351.4
Missense OE1.05 (0.971.14)
00.61.4
Synonymous OE1.21
01.21.6
LoF obs/exp: 22 / 24.7Missense obs/exp: 456 / 433.7Syn Z: -2.07
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveSLITRK6-related deafness and myopiaLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6453th %ile
GOF
0.7127th %ile
LOF
0.4135th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLITRK6 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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