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  2. Likely inborn error of metabolism
  3. PIGS
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Likely inborn error of metabolism

Gene: PIGS

Green List (high evidence)
PIGS (phosphatidylinositol glycan anchor biosynthesis class S)
EnsemblGeneIds (GRCh38): ENSG00000087111
EnsemblGeneIds (GRCh37): ENSG00000087111
OMIM: 610271, Gene2Phenotype
PIGS is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval
Created: 3 Mar 2022, 12:59 p.m. | Last Modified: 3 Mar 2022, 12:59 p.m.
Panel Version: 2.223
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 29 Jun 2020, 9:52 a.m. | Last Modified: 29 Jun 2020, 9:52 a.m.
Panel Version: 2.12
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases.
Created: 29 Jun 2020, 9:51 a.m. | Last Modified: 29 Jun 2020, 9:51 a.m.
Panel Version: 2.11
Created: 29 Jun 2020, 9:51 a.m.
Last Modified: 29 Jun 2020, 9:51 a.m.
Copied from panel: Congenital disorders of glycosylation v2.74

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert list
Created: 26 Jan 2020, 8:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18 618143

Publications

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

Created: 26 Jan 2020, 8:38 a.m.

Copied from panel: Congenital disorders of glycosylation v2.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 18 618143
OMIM
610271
Clinvar variants
Variants in PIGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: PIGS.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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

5 Aug 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PIGS was added gene: PIGS was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: PIGS. Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143