Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: PIGT

Red List (low evidence)

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 11 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
  • ?Paroxysmal nocturnal hemoglobinuria 2, 615399
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIGT was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Radboud University Medical Center, Nijmegen