Epileptic encephalopathy
Gene: PIGA
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: G2P and OMIM both state biallelic in females, confirmed with reviewer.Created: 29 Jan 2016, 5:03 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 21 Jan 2016, 11:27 a.m.
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PIGA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2
The Gel status was updated for this whole panel
PIGA was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
PIGA was created by Reviewer_03
PIGA was added to Epileptic encephalopathypanel. Sources: Expert Review