HYLS1

Chr 11AR

HYLS1 centriolar and ciliogenesis associated

Also known as: HLS

NCBI Gene: 219844ENSG00000198331UniProt: Q96M11OMIM: 610693

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hydrolethalus syndromeMIM #236680
AR

Clinical highlights

Gene-disease validity (ClinGen)
hydrolethalus syndrome · ARModerateconsider for supplementary testing
1
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — HYLS1
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.30
OE 0.92 (0.60–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.18Z-score
OE missense 0.96 (0.84–1.10)
161 obs / 167.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.60–1.43)
0≤0.351.4
Missense OE?0.96 (0.84–1.10)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 14 / 15.3Missense obs/exp: 161 / 167.4Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HYLS1 · protein map & ClinVar variants

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

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