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  2. Congenital Disorders of Glycosylation
  3. PIGO
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Congenital Disorders of Glycosylation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with intellectual disability, distinctive facial features, intractable seizures, hyperphosphatasia and variable congenital anomalies. More than 10 unrelated families reported.
Created: 19 Dec 2020, 8:42 a.m. | Last Modified: 19 Dec 2020, 8:42 a.m.
Panel Version: 0.279

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

Publications

Created: 19 Dec 2020, 8:42 a.m.
Last Modified: 19 Dec 2020, 8:42 a.m.
Panel version: 0.282

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
OMIM
614730
Clinvar variants
Variants in PIGO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2020, 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, MIM# 614749 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

19 Dec 2020, 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).

19 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749

19 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGO were set to

19 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGO was added gene: PIGO was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIGO was set to Unknown