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Fetal anomalies

Gene: PIGY

Amber List (moderate evidence)

PIGY (phosphatidylinositol glycan anchor biosynthesis class Y)
EnsemblGeneIds (GRCh38): ENSG00000255072
EnsemblGeneIds (GRCh37): ENSG00000255072
OMIM: 610662, Gene2Phenotype
PIGY is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.

Joint contractures, microcephaly, cataracts and other ultrasound-detectable abnormalities reported.
Created: 12 Feb 2020, 2:43 a.m. | Last Modified: 1 Feb 2022, 1:07 a.m.
Panel Version: 0.3016

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809
OMIM
610662
Clinvar variants
Variants in PIGY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pigy has been classified as Amber List (Moderate Evidence).

1 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGY were changed from Glycosylphosphatidylinositol deficiency to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809

1 Feb 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGY were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGY was added gene: PIGY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency