ClinGen Gene Validity Curations

Gene: HNRNPK

I don't know

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.

Created: 23 Jun 2017, 11:51 a.m.

Source: ClinGen Gene Validity Classification Summary. Determined as MODERATE by calculated classification and MODERATE by Expert curation (dated 11/15/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/5456. Comments provided by the expert curation: Evidence is rapidly emerging supporting the association between HNRNPK and Au-Kline syndrome. Gallardo et al. published a paper in 2015 describing an Hnrnpk +/- haploinsufficient mouse, which they developed to study its role in tumorigenesis. Personal communication with the senior author of that paper, Sean Post, in August 2016, revealed that the haploinsufficient mice appeared to have "significant reduction in overall size and had numerous structural/bone abnormalities," remniscient of the human phenotype, though he clarified that his group is not able to formally assess them for these types of phenotypes. Additionally, we are aware of at least one additional unpublished case - this evidence is not being formally considered, as it is not part of the public domain.

Created: 20 Jun 2017, 3 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted