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Genetic epilepsy syndromes

Gene: PIGT

Green List (high evidence)

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 11 panels

3 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 multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3). Kvarnug et al, 2013 - 4 aff members of a consang Turkish family- hom missense variant - studies showed that the variant led to a defect in enzyme function. Nakashima et al, 2014 - Japanese girl - compoind het for a nonsense and a missense variant - transfection studies support pathogenicity. Skauli et al, 2016 - 2 brothers consang Somali origin - hom missense variant - in vitro studies undertaken. Kohashi et al, 2018 - compound het for nonsense and missense variant
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
?Paroxysmal nocturnal hemoglobinuria,615399; Multiple congenital anomalies-hypotonia-seizures syndrome,615398

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient evidence for this gene to be green on this panel
Created: 4 May 2017, 1:22 p.m.
3 new variants in 2 families (PMID 28327575). A total of 6 variants have now been reported, this gene is also a confirmed G2P gene for Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Created: 4 May 2017, 1:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
None
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 PIGT.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PIGT.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: 3 new variants in 2 families (

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PIGT. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PIGT. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PIGT was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

PIGT was created by Sarah Leigh