1. Panels
  2. Prepair 1000+
  3. PIGO
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, congenital onset.
Created: 27 Dec 2024, 5:09 a.m. | Last Modified: 27 Dec 2024, 5:09 a.m.
Panel Version: 1.919

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749

Created: 27 Dec 2024, 5:09 a.m.
Last Modified: 27 Dec 2024, 5:09 a.m.
Panel version: 1.919

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3)

Publications

Created: 16 Dec 2024, 5:58 a.m.
Last Modified: 16 Dec 2024, 5:58 a.m.
Panel version: 1.836

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749
OMIM
614730
Clinvar variants
Variants in PIGO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, 614749 (3) to Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGO were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGO was added gene: PIGO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)