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Inborn errors of metabolism

Gene: PIGO

Green List (high evidence)

PIGO (phosphatidylinositol glycan anchor biosynthesis class O)
EnsemblGeneIds (GRCh38): ENSG00000165282
EnsemblGeneIds (GRCh37): ENSG00000165282
OMIM: 614730, Gene2Phenotype
PIGO is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 2 614749
OMIM
614730
Clinvar variants
Variants in PIGO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PIGO. Source London North GLH was added to PIGO.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PIGO was added gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086; 27177984; 24129430 Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749