Intellectual disability update Jan 2018

Gene: HAX1

Comment when marking as ready: Majority have not had ID, further evidence needed as to frequency of ID / seizures and perhaps mutational spectrum.

Created: 8 Mar 2018, 2:15 p.m.

Comment on list classification: To date, a minority of cases have had ID or seizures, although there is some evidence emerging about the possibility of alternative transcripts. At present all cases have presented with severe congenital neutropaenia and infectious complications and would therefore be expected to present in this manner. Therefore there is a question regarding the clinical utility in isolated ID / seizure presentation

Created: 8 Mar 2018, 2:14 p.m.

Associated with phenotype in OMIM and as a confirmed G2P association. At least 8 variants have been reported in Neutropenia, severe congenital 3, autosomal recessive (610738), three of these were in cases who also displayed mental retardation, with p.Arg86* reported in 3 unrelated Japanese patients (PMID18611981).

Reported as a gene linked to isolated ID and associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178).

Created: 6 Mar 2018, 7:11 p.m.