Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: PIGH

Green List (high evidence)

PIGH (phosphatidylinositol glycan anchor biosynthesis class H)
EnsemblGeneIds (GRCh38): ENSG00000100564
EnsemblGeneIds (GRCh37): ENSG00000100564
OMIM: 600154, Gene2Phenotype
PIGH is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, 618010

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.
Created: 13 Aug 2019, 4:24 p.m. | Last Modified: 15 Aug 2019, 8:07 a.m.
Panel Version: 1.223
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: Alison Callaway and John Taylor. 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
Comment on list classification: Kept rating as Amber following review of Literature evidence. Although Zornitza rates as Green, PIGH is not yet associated with a disorder in Gene2Phenotype. There are only two relevant papers in the literature: PMID:29573052 report two siblings, and the individual in PMID:29603516 had only febrile seizures (no epilepsy).
Created: 1 Jul 2019, 4:02 p.m. | Last Modified: 1 Jul 2019, 4:02 p.m.
Panel Version: 1.99
Comment on publications: PMID:29603510 isn't relevant to epilepsy so haven't included in the Publication field. Zornitza probably meant PMID:29603516.
Created: 1 Jul 2019, 3:49 p.m. | Last Modified: 1 Jul 2019, 3:49 p.m.
Panel Version: 1.98
PMID:29603516: Nguyen et al., 2018 identified an individual with a missense variant (p.Ser103Pro) in gene PIGH. The affected individual who was born of consanguineous Indian parents had hypotonia, moderate developmental delay, and autism. The proband did not have epilepsy; however, he did have two episodes of febrile seizures.
Created: 1 Jul 2019, 3:43 p.m. | Last Modified: 1 Jul 2019, 3:57 p.m.
Panel Version: 1.98
PMID:29573052: Pagnamenta et al., 2018 found a c.1A>T PIGH variant in a boy (DECIPHER ID 265247) with epilepsy, microcephaly and behavioural difficulties. A similarly-affected sister was also homozygous. Exome coverage was very low at the PIGH start codon (2/2 reads harboured the transversion in the proband) but both parents were heterozygous carriers and therefore the allele is plausible to be homozygous in the proband. The proband developed febrile convulsions aged 14 months, which progressed to afebrile generalized myoclonic seizures at 3 years of age. His sister developed epilepsy with generalized tonic clonic seizures starting at 3.5 years of age, initially febrile and then afebrile.
Created: 1 Jul 2019, 3:42 p.m. | Last Modified: 1 Jul 2019, 3:42 p.m.
Panel Version: 1.97

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note two additional reports this year.
Created: 3 Sep 2018, 2:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epilepsy, microcephaly, developmental delay

Publications

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: PMID: 29573052 mentions the following phenotype: hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Created: 26 Sep 2018, 4:06 p.m.
Gene originally listed on the Intellectual disability panel V2.42.
Not associated with phenotype in OMIM or in Gen2Phen. Single homozygous variant reported in a child of a consanguineous couple of Indian origin, he had two episodes of febrile seizures at 17 months of age, which did not recur and anti-epileptic medication was not required.
Created: 10 Apr 2018, 12:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 17, 618010
  • epilepsy
  • febrile seizures
OMIM
600154
Clinvar variants
Variants in PIGH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PIGH.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PIGH.

1 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pigh has been classified as Amber List (Moderate Evidence).

1 Jul 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PIGH were set to 29603516; 29573052

1 Jul 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PIGH were changed from Glycosylphosphatidylinositol biosynthesis defect 17 618010 to Glycosylphosphatidylinositol biosynthesis defect 17, 618010; epilepsy; febrile seizures

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigh has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigh has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigh has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIGH were changed from Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect 17 618010

26 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PIGH were set to 29603516; 29573052; 29603510

26 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PIGH were set to 29603516

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PIGH was added to Genetic Epilepsy Syndromes panel. Sources: Literature

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PIGH was created by Sarah Leigh