Epileptic encephalopathy
Gene: PIGQ
Alazami et al identified a patient with "Intractable seizure, developmental delay and optic atrophy" and homozygous c.619C>T; p.Arg207Ter variant in this gene. See www.ncbi.nlm.nih.gov/clinvar/variation/183339/ and supplemental data for PMID: 25558065. I'm not sure if this is sufficient to upgrade to amber but nevertheless worth highlighting as there is phenotypic overlap with patient described in Martin et al and none of the other reviews mention this study.Created: 5 Dec 2018, 12:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intractable seizures; developmental delay; optic atrophy
Publications
Publications
Publications
Publications
Publications
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:18 p.m.
The Gel status was updated for this whole panel
PIGQ was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
PIGQ was created by Reviewer_03
PIGQ was added to Epileptic encephalopathypanel. Sources: Expert Review