PIGF

phosphatidylinositol glycan anchor biosynthesis class F
OMIM: 600153, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PIGF in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356

Red PIGF in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356

Red PIGF in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356

Red PIGF in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356