Intellectual disability update Jan 2018

Gene: HIVEP2

Comment when marking as ready: Sufficient cases, appropriate phenotype

Created: 5 Mar 2018, 11:59 a.m.

This is a confirmed gene in Gene2Phenotype for HIVEP2 associated syndromic developmental delay with intellectual disability

Created: 5 Mar 2018, 10:39 a.m.

Comment on list classification: Promoted gene status from Red to Green as there are more than three unrelated cases with Mental retardation, autosomal dominant 43.

Created: 5 Mar 2018, 10:22 a.m.

Comment on publications: This was a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, there is now evidence in the literature to support the association between variants of this gene and an observed intellectual disability.

Created: 5 Mar 2018, 10:22 a.m.

Comment on publications: Rauch et al. (2012) PMID: 23020937 identified a de novo heterozygous truncating mutation in the HIVEP2 gene in a woman born of unrelated German patients, with MRD43.
In 2 unrelated children with MRD43, Srivastava et al. (2016) PMID :26153216 identified de novo heterozygous truncating mutations in the HIVEP2 gene and then Steinfeld et al. (2016) PMID: 27003583 identified 6 different de novo heterozygous truncating mutations in the HIVEP2 gene 6 unrelated children with MRD43.

Created: 5 Mar 2018, 10:19 a.m.

Comment on mode of inheritance: MOI from PMID: 23020937 and 26153216

Created: 5 Mar 2018, 10:01 a.m.

Comment on phenotypes: added phenotype from OMIM

Created: 5 Mar 2018, 9:59 a.m.