1. Genes and Genomic Entities
  2. AP4E1

AP4E1

adaptor related protein complex 4 epsilon 1 subunit
OMIM: 607244, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green AP4E1 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 Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
Green AP4E1 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
Green AP4E1 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
Amber AP4E1 in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.11
Latest signed off version: v6.10 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, OMIM:613744
    • Hereditary spastic paraplegia 51, MONDO:0013401
    Red AP4E1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, OMIM:613744
    • Hereditary spastic paraplegia 51, MONDO:0013401
    Green AP4E1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, OMIM:613744
    • Hereditary spastic paraplegia 51, MONDO:0013401
    Green AP4E1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
    Green AP4E1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, OMIM:613744
    • Hereditary spastic paraplegia 51, MONDO:0013401