1. Genes and Genomic Entities
  2. PGAP1

PGAP1

post-GPI attachment to proteins 1
OMIM: 611655, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red PGAP1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Red PGAP1 in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
  • Expert list
Red PGAP1 in Hereditary spastic paraplegia, adult onset


Level 2: Neurology
Version 6.14
Latest signed off version: v6.13 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • South West GLH
    Red PGAP1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Green PGAP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.4
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802
    Green PGAP1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual disability, encephalopathy, impaired GPI-anchor maturation
    Green PGAP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Mental retardation, autosomal recessive 42, 615802