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  2. Intellectual_disability
  3. PIGN
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Intellectual_disability

Gene: PIGN

Red List (low evidence)
PIGN (phosphatidylinositol glycan anchor biosynthesis class N)
EnsemblGeneIds (GRCh38): ENSG00000197563
EnsemblGeneIds (GRCh37): ENSG00000197563
OMIM: 606097, Gene2Phenotype
PIGN is in 9 panels

0 reviews

Details

Sources
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
  • Intellectual disability
OMIM
606097
Clinvar variants
Variants in PIGN
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGN was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGN was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen