Traits

Traits linked to GNAT2

G protein subunit alpha transducin 2

The Human Phenotype Ontology links 25 traits to GNAT2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormal color vision	Very often (80–99%)
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Abnormality of refraction	Very often (80–99%)
Color vision test abnormality	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Inner retinal layer loss on macular OCT	Very often (80–99%)
Pendular nystagmus	Very often (80–99%)
Total colorblindness	Very often (80–99%)
Undetectable light-adapted electroretinogram	Very often (80–99%)
Visual impairment	Very often (80–99%)
Absent foveal reflex	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Close sighted	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Farsightedness	Often (30–79%)
Hypoplasia of the fovea	Often (30–79%)
Abnormal macular morphology	Sometimes (5–29%)
Abnormal pupillary light reflex	Sometimes (5–29%)
Eccentric visual fixation	Sometimes (5–29%)
Retinal pigment epithelial mottling	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Rarely (1–4%)
Achromatopsia	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GNAT2 and how often each is seen. Find out more at hpo.jax.org.

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