HAUS6

Chr 9

HAUS augmin like complex subunit 6

Also known as: Dgt6, FAM29A

NCBI Gene: 54801ENSG00000147874UniProt: Q7Z4H7OMIM: 613433

The protein is a subunit of the HAUS augmin-like complex that promotes microtubule nucleation from the spindle and contributes to mitotic spindle assembly, centrosome integrity, and cytokinesis completion. Mutations cause microcephalic primordial dwarfism, which follows autosomal recessive inheritance and presents with severe growth restriction and microcephaly from birth. This gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern observed clinically.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.96
Clinical Summary— HAUS6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
80 unique Pathogenic / Likely Pathogenic· 152 VUS of 270 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.000
Z-score 1.75
OE 0.72 (0.54–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-2.18Z-score
OE missense 1.28 (1.20–1.37)
606 obs / 472.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.72 (0.54–0.96)
0≤0.351.4
Missense OE1.28 (1.20–1.37)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 32 / 44.6Missense obs/exp: 606 / 472.6Syn Z: -2.60
DN
0.6842th %ile
GOF
0.5660th %ile
LOF
0.3746th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

ClinVar Variant Classifications

270 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic5
VUS152
Likely Benign11
Benign1
75
Pathogenic
5
Likely Pathogenic
152
VUS
11
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
75
0
75
Likely Pathogenic
0
0
5
0
5
VUS
0
140
12
0
152
Likely Benign
0
9
2
0
11
Benign
0
0
1
0
1
Total0149950244

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HAUS6 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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