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  2. Congenital Disorders of Glycosylation
  3. PIGS
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Congenital Disorders of Glycosylation

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Created: 26 Jan 2020, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18 618143

Publications

Created: 26 Jan 2020, 8:28 a.m.

Panel version: 0.19

Details

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

History Filter Activity

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGS was added gene: PIGS was added to Congenital Disorders of Glycosylation. Sources: Expert Review 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 Review for gene: PIGS was set to GREEN