Traits

Traits linked to PAN2

poly(A) specific ribonuclease subunit PAN2

The Human Phenotype Ontology links 98 traits to PAN2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Always
Deformity of the skull	Always
Depressed nasal bridge	Always
Eye folds	Always
Full cheeks	Always
Little lower jaw	Always
Long philtrum	Always
Myopathic facies	Always
Nasal tip, upturned	Always
Smooth philtrum	Always
Sparse eyebrow	Always
Thick eyebrow	Always
Triangular head shape	Always
Upward slanting of the opening between the eyelids	Always
Wide mouth	Always
Abnormally small head	Often (30–79%)
Broad forehead	Often (30–79%)
Broad head shape	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
Low frontal hairline	Often (30–79%)
Monobrow	Often (30–79%)
Short neck	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Flat back of skull	Sometimes (5–29%)
Long nose	Sometimes (5–29%)
Small face	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Always
Close sighted	Always
Drooping upper eyelid	Always
Posterior embryotoxon	Always
Severe farsightedness	Always
Cross-eyed	Often (30–79%)
Esodeviation	Often (30–79%)
Wide-set eyes	Often (30–79%)
Deeply set eye	Sometimes (5–29%)
Hyperopic astigmatism	Sometimes (5–29%)
Iris degeneration	Sometimes (5–29%)
Rieger anomaly	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of balance	Always
Delayed speech and language development	Always
EEG abnormality	Always
Febrile seizure (within the age range of 3 months to 6 years)	Always
Frequent temper tantrums	Always
Global developmental delay	Always
Intellectual disability, mild	Always
Myoclonic seizure	Always
Slurred speech	Always
IQ between 34 and 49	Very often (80–99%)
Epilepsy	Often (30–79%)
Intellectual disability, borderline	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Always
Acid reflux	Always
Anal fistula	Always
Feeding difficulties	Always
Gallbladder inflammation	Always
Gallstones	Always
Inguinal hernia	Always
Pancreatic inflammation	Always
Umbilical hernia	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
Patent ductus arteriosus	Always
Patent foramen ovale	Always
Tetralogy of Fallot	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Always
Duplicated collecting system	Always
Frequent urinary tract infections	Always
Kidney stone	Always
Renal failure	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Funnel chest	Always
Low muscle tone	Always
Narrow chest	Always
Scoliosis	Always

Abnormality of limbs

Trait	How often it is seen
Broad thumb	Always
Curvature of digit	Always
Curvature of little finger	Always
Overlapping toe	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Recurrent middle ear infection	Always
Sensorineural hearing impairment	Always
Low-set ears	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune thrombocytopenia	Always
Hemolytic anemia	Always
Petechiae	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Decreased body weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Moderate to late preterm birth	Always

Abnormality of the immune system

Trait	How often it is seen
Brain abscess	Always

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always

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 PAN2 and how often each is seen. Find out more at hpo.jax.org.

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