GNAO1

Chr 16AD

G protein subunit alpha o1

Also known as: DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, NEDIM

NCBI Gene: 2775ENSG00000087258UniProt: P09471OMIM: 139311

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 17MIM #615473
AD
Neurodevelopmental disorder with involuntary movementsMIM #617493
AD

Clinical highlights

Gene-disease validity (ClinGen)
movement disorder · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
59
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.26
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — GNAO1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.26LOEUF
pLI 0.990
Z-score 3.73
OE 0.06 (0.02–0.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.19Z-score
OE missense 0.41 (0.34–0.48)
93 obs / 228.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.06 (0.02–0.26)
0≤0.351.4
Missense OE?0.41 (0.34–0.48)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 1 / 18.1Missense obs/exp: 93 / 228.9Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNAO1 · 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