LINS1

Chr 15AR

lines homolog 1

Also known as: LINS, MRT27, WINS1

LINS1 encodes a protein containing a lines-like domain that plays important roles in epidermal and hindgut development. Mutations cause autosomal recessive intellectual developmental disorder. The gene shows minimal constraint against loss-of-function variants (pLI near 0, LOEUF 0.96), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIMResearchSummary from RefSeq, OMIM
LOFmechanismARLOEUF 0.961 OMIM phenotype
Clinical SummaryLINS1
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Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · 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.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.000
Z-score 1.70
OE 0.62 (0.410.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.68Z-score
OE missense 1.10 (1.011.19)
427 obs / 389.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.62 (0.410.96)
00.351.4
Missense OE1.10 (1.011.19)
00.61.4
Synonymous OE1.00
01.21.6
LoF obs/exp: 14 / 22.8Missense obs/exp: 427 / 389.0Syn Z: 0.03
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongLINS1-related intellectual developmental disorderLOFAR

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

DN
0.6358th %ile
GOF
0.5268th %ile
LOF
0.4037th %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

LINS1 · 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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