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Inborn errors of metabolism

Gene: PIGW

Red List (low evidence)

PIGW (phosphatidylinositol glycan anchor biosynthesis class W)
EnsemblGeneIds (GRCh38): ENSG00000277161
EnsemblGeneIds (GRCh37): ENSG00000184886
OMIM: 610275, Gene2Phenotype
PIGW is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Hyperphosphatasia with mental retardation syndrome 5
OMIM
610275
Clinvar variants
Variants in PIGW
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PIGW was added gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5