PIGV phosphatidylinositol glycan anchor biosynthesis class V

Gene info

Synonyms

GPI mannosyltransferase 2|dol-P-Man dependent GPI mannosyltransferase II

Previous symbol

None

External ID

HGNC: 26031
Entrez Gene: 55650
Ensembl: ENSG00000060642
UCSC: uc001bmz.4
OMIM: 610274
UniProtKB: Q9NUD9

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent foramen ovale

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental disorder, Failure to thrive, Gastrointestinal abnormalities, genitourinary anomalies, Hyperphosphatasia

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

1

MGI ID

2442480

Variant info

Clinvar

PIGV

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Krawitz, P. M., Murakami, Y., Hecht, J., Krüger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., & Horn, D. (2012). Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation. The American Journal of Human Genetics, 91(1), 146–151. https://doi.org/10.1016/j.ajhg.2012.05.004 DOI:10.1016/j.ajhg.2012.05.004 PMID:22683086
  2. Horn, D., Wieczorek, D., Metcalfe, K., Barić, I., Paležac, L., Ćuk, M., Petković Ramadža, D., Krüger, U., Demuth, S., Heinritz, W., Linden, T., Koenig, J., Robinson, P. N., & Krawitz, P. (2013). Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. European Journal of Human Genetics, 22(6), 762–767. https://doi.org/10.1038/ejhg.2013.241 DOI:10.1038/ejhg.2013.241 PMID:24129430