Traits

Traits linked to TMEM260

transmembrane protein 260

The Human Phenotype Ontology links 23 traits to TMEM260, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
Systolic heart murmur	Always
Truncus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Interrupted aortic arch	Sometimes (5–29%)
Partial anomalous pulmonary venous return	Sometimes (5–29%)
Persistent left superior vena cava	Sometimes (5–29%)
Right aortic arch	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Tricuspid atresia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Sometimes (5–29%)
Renal failure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated creatinine	Always
Generalized edema	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Overlapping toe	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Partial agenesis of the corpus callosum	Often (30–79%)

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 TMEM260 and how often each is seen. Find out more at hpo.jax.org.

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