ClinGen Dosage Sensitivity Curation Page

TMEM237

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: JOUBERT SYNDROME 14; JBTS14

Haploinsufficiency phenotype comments:

Variants in TMEM237 have been described in Joubert syndrome, and autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity