ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

PMID 27588452: Namburi P, (2016): Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss PMID 27627988: Fu Q (2017): WES and WGS testing of patients from two independent families with juvenile/adult-onset cone-rod dystrophy and sensorineural hearing loss identified two homozygous rare variants that affect splicing of CEP78. PMID 27588451: Nikopoulos K (2016): Exome analysis of a cohort of individuals with cone-rod degeneration (CRD) identified biallelic mutations in CEP78 in three patients from two families: one from Greece and another from Sweden. The Greek patient was homozygous for the c.499+1G>T (IVS3+1G>T) mutation. The Swedish patients were compound heterozygotes for c.499+5G>A (IVS3+5G>A) and c.633delC (p.Trp212Glyfs(?)18). In addition to CRD, these individuals had hearing deficits.

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