Epileptic encephalopathy
Gene: PIGQEnsemblGeneIds (GRCh38): ENSG00000007541
EnsemblGeneIds (GRCh37): ENSG00000007541
OMIM: 605754, Gene2Phenotype
PIGQ is in 5 panels
6 reviews
Alistair Pagnamenta (University of Oxford)
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
- PMID: 25558065
Amy McTague (UCL Institute of Child Health)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Natalie Trump (NHS - Great Ormond Street Hospital)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Manju Kurian (UCL-Institute of Child Health)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Richard Scott (North Thames GMC/UCL)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Ellen McDonagh (Genomics England Curator)
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.
Details
- Sources
-
- Expert Review Red
- OMIM
- 605754
- Clinvar variants
- Variants in PIGQ
- Penetrance
- Complete
- Publications
-
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
- Panels with this gene
History Filter Activity
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PIGQ was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Richard Scott (North Thames GMC/UCL)PIGQ was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)PIGQ was added to Epileptic encephalopathypanel. Sources: Expert Review