TMEM231

Curated reports relevant to this gene

• Joubert Syndrome And Related Disorders

  • Autosomal recessive

    Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

    • 3 GenCC submitters rate it definitive or strong
  • Joubert Syndrome

    A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

    • 3 GenCC submitters rate it definitive or strong

• Meckel Syndrome

  • Autosomal recessive

    A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

    • 1 GenCC submitter rates it definitive or strong

Broader groupings

• Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

  • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

    One of 57 genes linked to it

    A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

    • 3 GenCC submitters rate it definitive or strong

    What knowing changes

    Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

How TMEM231 is laid out

Exons make up 4.2 kb of the gene's 19.5 kb; 951 of those bases code for the protein.

How a genome test reads TMEM231

Genes linked to the same conditions

• MKS1MKS transition zone complex subunit 1Shares 4 conditions
• TMEM67transmembrane protein 67Shares 4 conditions
• AHI1Abelson helper integration site 1Shares 3 conditions
• CC2D2Acoiled-coil and C2 domain containing 2AShares 3 conditions
• CEP290centrosomal protein 290Shares 3 conditions
• CEP41centrosomal protein 41Shares 3 conditions
• CSPP1centrosome and spindle pole associated protein 1Shares 3 conditions
• KIAA0586KIAA0586Shares 3 conditions
• TMEM138transmembrane protein 138Shares 3 conditions
• TMEM216transmembrane protein 216Shares 3 conditions
• TMEM237transmembrane protein 237Shares 3 conditions
• B9D1B9 domain containing 1Shares 2 conditions

Traits linked to TMEM231

The Human Phenotype Ontology lists these as features of the rare conditions TMEM231 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

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