ClinGen Dosage Sensitivity Curation Page

NRG3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID: 21248748 van Bon (2011): Multiple probands with large, recurrent deletions encompassing many genes are described. The deletions were associated with developmental delay, mainly affecting speech, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia. One proband (patient 8) had a small deletion which involved a portion of NRG3 alone but it was paternally inherited. PMID:20345475 Alliman (2010): 6 patients with recurrent ~7 Mb deletion and dysmorphic features such as macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for gain of function phenotype
PubMed ID Description
21248748 van Bon (2011): Multiple probands with recurrent duplications encompassing many genes are described. Patients have a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members.