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Genetic epilepsy syndromes

Gene: PIGO

Green List (high evidence)

PIGO (phosphatidylinositol glycan anchor biosynthesis class O)
EnsemblGeneIds (GRCh38): ENSG00000165282
EnsemblGeneIds (GRCh37): ENSG00000165282
OMIM: 614730, Gene2Phenotype
PIGO is in 9 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR hyperphosphatasia with mental retardation syndrome 2. Some patients have additional features incl seizures. Krawitz et al, 2012 - 2 sisters born of unrelated British parents (compound het for 2 PIGO mutations) and an unrelated girl with MR. The unrelated girl died of seizures at 22 months (compound het for two PIGO mutations) - in vitro functional expression studies done. Tanigawa et al, 2017 - new patients with PIGO mutation and also summarising against cases reported by Krawitz et al, 2012, Kuki et al, 2013, Nakamura et al, 2014 & Xue et al, 2016 - 7/11 had seizures from 6 families.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome, 614749

Publications

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient cases with compound heterozygous mutations in PIGO and 3 cases with seizures.
Created: 21 Nov 2018, 11:38 a.m.
Comment on publications: Further cases reported in PMIDs: 28900819 and 28337824
Created: 21 Nov 2018, 11:20 a.m.
Comment on list classification: Sufficient cases with compound heterozygous mutations in PIGO and 3 cases with seizures.
Created: 21 Nov 2018, 11:03 a.m.
PIGO is associated with Hyperphosphatasia with mental retardation syndrome 2 in OMIM and Gene2Phenotype (confirmed).

3 individuals from 2 families reported by Krawitz et al 2012 (PMID: 22683086). In family A two sisters are compound heterozygous for c.2869C>T and c.2361dup. In family B the affected individual is compound heterozygous c.2869C>T and c.3069+5G>A. The affected individual in family B presented with seizures.

Kuki et al 2013 (PMID: 24049131) reports case of 9 year old boy with deafness, tetralogy of Fallot, and Hirschsprung disease; showed muscular hypotonia and facial dysmorphism; and had short fingers with hypoplasia of the distal phalanges. At 1 year of age, he began to have intractable partial seizures. Two mutations were detected in PIGO, c.355C.T (p.Arg119Trp; NM_032634) and c.2497_2498del ,leading to a frameshift mutation, p.Ala834fs.

Nakamura et al 2014 (PMID: 24417746) reports 2 siblings with severe epileptic seizures, developmental delay, and mild elevation of ALP and compound heterozygous mutations in PIGO c.389C>A (p.Thr130Asn) and c.1288C>T (p.Gln430*).

Summary: >3 cases/families of compound heterozygous mutations in PIGO in patients with Hyperphosphatasia with mental retardation syndrome 2 and 3 cases with seizures.
Created: 21 Nov 2018, 11:01 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.
Created: 18 Aug 2018, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 2, MIM#614749

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, 614749
OMIM
614730
Clinvar variants
Variants in PIGO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PIGO.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PIGO.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

21 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pigo has been classified as Green List (High Evidence).

21 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PIGO were set to 22683086; 24049131; 24417746; 28900819

21 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, 614749

21 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PIGO were set to

21 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PIGO was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pigo has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PIGO. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PIGO was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PIGO was created by Sarah Leigh