ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

Jaeken et al. describe 11 patients from 9 reportedly unrelated families from Belgium and France. 4 different sized deletions were found, each involving only SLC3A1 and PREPL. Patients were either homozgyous or compound heterozygous for these particular deletions. Heterozygous deletions were found in each of the parents, when available. Expression studies in one patient revealed normal expression patterns for PP2C? and C2orf34, the other two genes implicated in the earlier report. Phenotype included cystinuria, known to be associated with AR loss of function mutations in SLC3A1, as well as hypotonia, dysmorphic features, etc. The authors hypothesize that these additional features can be attributed to the homozygous deletion involving PREP (16385448). Note that this phenotype has been associated with homozygous deletions. Abnormal phenotype was not reported for available parents (heterozygous deletion carriers).

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