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  3. PIGW
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Likely inborn error of metabolism

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.
Panel Version: 6.10
This gene should be rated green on this panel as it has been added with green rating on 'Congenital disorders of glycosylation' panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGW/)
Created: 20 Jun 2024, 2:18 p.m. | Last Modified: 20 Jun 2024, 2:18 p.m.
Panel Version: 5.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025; hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457

Publications

Created: 20 Jun 2024, 2:18 p.m.
Last Modified: 20 Jun 2024, 2:18 p.m.
Panel version: 6.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Hyperphosphatasia with mental retardation syndrome 5
OMIM
610275
Clinvar variants
Variants in PIGW
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: PIGW.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PIGW. Source Expert Review Green was added to PIGW. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: PIGW.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PIGW was added gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5