PGAP1:Ensemblv90

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PGAP1 in Mendeliome


Version 1.3802

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 1.508

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 1.130

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 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 0.111

    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 1.482

    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 2.15

    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

    Red PGAP1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    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
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive

    Green PGAP1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

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