LINS1

Chr 15AR

lines homolog 1

Also known as: LINS, MRT27, WINS1

NCBI Gene: 55180 ENSG00000140471 UniProt: Q8NG48 OMIM: 610350

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.

OMIM ResearchSummary from RefSeq, OMIM

The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 27MIM #614340

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · 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.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

LOF

Mechanism· G2P