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Intellectual disability

Gene: PIGY

Red List (low 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 (Australian Genomics)

I don't know

Multiple individuals from two unrelated families reported in the literature, ID is part of the phenotype, consider inclusion as Amber.
Created: 22 Jun 2018, 2:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 6

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 6
OMIM
610662
Clinvar variants
Variants in PIGY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PIGY.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PIGY was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PIGY was created by Zornitza Stark