HAUS1
Chr 18HAUS augmin like complex subunit 1
Also known as: CCDC5, HEI-C, HEIC, HsT1461
The protein is one of eight subunits of the HAUS augmin complex that contributes to mitotic spindle assembly, maintenance of centrosome integrity, and completion of cytokinesis. Mutations cause autosomal recessive primary microcephaly with simplified gyral pattern (MCPH24), characterized by severe intellectual disability and early-onset seizures. This gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
109 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 45 | 0 | 45 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 45 | 2 | 0 | 47 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 45 | 50 | 1 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HAUS1 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools