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Epileptic encephalopathy

Gene: PIGQ

Red List (low evidence)

PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)
EnsemblGeneIds (GRCh38): ENSG00000007541
EnsemblGeneIds (GRCh37): ENSG00000007541
OMIM: 605754, Gene2Phenotype
PIGQ is in 3 panels

6 reviews

Alistair Pagnamenta (University of Oxford)

I don't know

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.
5 Dec 2018, 12:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intractable seizures; developmental delay; optic atrophy

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

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).
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

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGQ was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

PIGQ was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

PIGQ was added to Epileptic encephalopathypanel. Sources: Expert Review