ClinGen Dosage Sensitivity Curation Page

HIVEP2

Select assembly: (NC_000006.11)

Evidence for haploinsufficiency phenotype
PubMed ID	Description
27003583	Steinfeld et al. Used whole exome sequencing (WES) to study 3,699 patients with neuro-developmental disorders. A total of six unrelated patients were found to have heterozygous de novo variants in HIVPE2. Five of the patients had predicted loss-of-function variants: 2 nonsense and 3 frameshift. The Sixth had a missense variant that is predicted to be damaging. The patients phenotype included developmental delay, intellectual disability and dysmorphic features.
26153216	Srivastava et al., 2015. Used whole exome sequencing (WES) to study patients with ID or global developmental delay at different centers. Three patients were identified with de novo loss-of-function variants in HIVEP2 and confirmed by Sanger sequencing. 2 were nonsense and 1 was a 1bp deletion resulting in a premature stop codon. All patients presented intellectual disability, hypotonia, and dysmorphic features.
23020937	Rauch et al., 2012; Studied 51 patients from the German Mental Retardation Network. They reported a de novo frameshift variant in HIVEP2 identified by whole exome sequencing (WES) in a patient with non-specific intellectual disability.

No duplications involving only the entire HIVEP2 gene reported.