Intellectual disability update Jan 2018

Gene: KLHL15

Comment on list classification: Changed status from Red to Amber, there are currently only two unrelated cases with Intellectual Disability and only pathogenic deletion variants have been reported for this gene.

Created: 5 Mar 2018, 11:13 a.m.

added deletions tag, currently only pathogenic deletion variants reported for this gene.

Created: 5 Mar 2018, 11:10 a.m.

Comment on phenotypes: added phenotype from OMIM

Created: 5 Mar 2018, 10:58 a.m.

Comment on publications: Added publications to support the association to the ID phenotype Mignon-Ravix et al. (2014) PMID: 24817631 reported a boy with X-linked mental retardation-103 (MRX103) and Hu et al. (2016) PMID: 25644381 reported a large multigenerational family (8 affected males) with MRX103

Created: 5 Mar 2018, 10:57 a.m.

Comment on mode of inheritance: added MOI from PMID:24817631, 25644381

Created: 5 Mar 2018, 10:48 a.m.

This is a possible DD gene in Gene2Phenotype for intellectual disability

Created: 5 Mar 2018, 10:40 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 phenotype.

Created: 5 Mar 2018, 10:36 a.m.