PIGL phosphatidylinositol glycan anchor biosynthesis class L

Gene info

Synonyms

N-acetylglucosaminylphosphatidylinositol deacetylase|N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Previous symbol

None

External ID

HGNC: 8966
Entrez Gene: 9487
Ensembl: ENSG00000108474
UCSC: uc002gpv.4
OMIM: 605947
UniProtKB: Q9Y2B2

Disease info

Disease

CHD Phenotype

  • Ventricular septal defect
  • Pulmonic stenosis
  • Tetralogy of fallot
  • Transposition of the great vessels
  • Double outlet right ventricle

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Hearing loss, Seizures, Colobomas, Failure to thrive, Genitourinary abnormalities

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

2681271

Variant info

Clinvar

PIGL

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. Ng, B. G., Hackmann, K., Jones, M. A., Eroshkin, A. M., He, P., Wiliams, R., Bhide, S., Cantagrel, V., Gleeson, J. G., Paller, A. S., Schnur, R. E., Tinschert, S., Zunich, J., Hegde, M. R., & Freeze, H. H. (2012). Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome. The American Journal of Human Genetics, 90(4), 685–688. https://doi.org/10.1016/j.ajhg.2012.02.010 DOI:10.1016/j.ajhg.2012.02.010 PMID:22444671
  2. Knight Johnson, A., Schaefer, G. B., Lee, J., Hu, Y., & del Gaudio, D. (2017). Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome. American Journal of Medical Genetics Part A, 173(5), 1378–1382. Portico. https://doi.org/10.1002/ajmg.a.38181 DOI:10.1002/ajmg.a.38181 PMID:28371479