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  3. PIGV
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Intellectual_disability

Gene: PIGV

Amber List (moderate evidence)
PIGV (phosphatidylinositol glycan anchor biosynthesis class V)
EnsemblGeneIds (GRCh38): ENSG00000060642
EnsemblGeneIds (GRCh37): ENSG00000060642
OMIM: 610274, Gene2Phenotype
PIGV is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, 239300
  • Hyperphosphatasia with Mental Retardation Syndrome
OMIM
610274
Clinvar variants
Variants in PIGV
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PIGV was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGV was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGV was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen