Intellectual disability update Jan 2018

Gene: GSS

Comment when marking as ready: Unclear clinical utility in an isolated ID cohort based upon the current evidence.

Created: 8 Mar 2018, 2:12 p.m.

Comment on list classification: PMID 15717202 states: "The mildly affected patients have isolated haemolytic anaemia, the moderately affected patients also have metabolic acidosis, and the severely affected patients additionally show progressive dysfunction of the central nervous system." Precise phenotypic information on the severe group is not provided but given that progressive dysfunction is referred to, it suggests that this is not initially a core part of the phenotype and therefore is of questionable use on this panel. Further cases would be helpful to determine this. At present, I suspect that this phenotype would be more likely to be detected via the undiagnosed metabolic or haematological routes.

Created: 8 Mar 2018, 1:54 p.m.

Neurological defects including mental retardation reported in cases of severe Glutathione synthetase deficiency 266130.
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795)

and as an ID candidate gene (Gilessen 2014 PMID 24896178) 

Created: 5 Mar 2018, 4:57 p.m.