PGAP1

post-GPI attachment to proteins inositol deacylase 1
OMIM: 611655, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PGAP1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802

Green PGAP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802

Red PGAP1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Mental retardation, autosomal recessive 42

Green PGAP1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive

Green PGAP1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802

Green PGAP1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802