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Intellectual disability

Gene: PIGW

Green List (high evidence)
PIGW (phosphatidylinositol glycan anchor biosynthesis class W)
EnsemblGeneIds (GRCh38): ENSG00000277161
EnsemblGeneIds (GRCh37): ENSG00000184886
OMIM: 610275, Gene2Phenotype
PIGW is in 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green, based the expert reviews and the evidence that was provided.
Created: 28 Jun 2019, 11:09 a.m. | Last Modified: 28 Jun 2019, 11:09 a.m.
Panel Version: 2.915
Created: 28 Jun 2019, 11:09 a.m.
Last Modified: 28 Jun 2019, 11:09 a.m.
Panel version: 2.915

Konstantinos Varvagiannis (Other)

Green List (high evidence)

PMID: 30078644 is a further report on the disorder. One individual homozygous for a missense variant is described. The phenotype included infantile spasms, profound developmental delay as well as additional features. The patient was homozygous for a missense variant [p.(Pro67Ala)], predicted to be pathogenic by 2 (out of 3) in silico prediction algorithms. Serum alkaline phosphatase (ALP) was elevated on two occasions. Flow cytometry was performed and demonstrated significantly decreased expression of GPIs, further supporting pathogenicity. The specific patient was tested using a diagnostic panel for epilepsy.

PIGW is included in gene panels for intellectual disability and/or epilepsy offered by different diagnostic labs.

As a result, this gene can be considered for possible upgrade to green.
Created: 16 Oct 2018, 10:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Created: 16 Oct 2018, 10:05 p.m.

Panel version: 2.510

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals from three unrelated families reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 2:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 11

Publications

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

Created: 22 Jun 2018, 2:09 p.m.

Panel version: 2.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 11, 616025
OMIM
610275
Clinvar variants
Variants in PIGW
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

28 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, 616025

28 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PIGW were set to 24367057, 27626616, 27626616

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PIGW.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PIGW was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PIGW was created by Zornitza Stark