ClinGen Dosage Sensitivity Curation Page

TCTN1

  • Curation Status: Complete

Location Information

  • 12q24.11
  • GRCh37/hg19 chr12: 111,051,832-111,086,935
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr12: 110,614,068-110,649,430
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: JOUBERT SYNDROME 13; JBTS13

Haploinsufficiency phenotype comments:

Variants in TCTN1 have been reported in individuals with Joubert syndrome 13, an autosomal recessive condition.

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