AP4E1

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green AP4E1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.217

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 51, autosomal recessive

No list AP4E1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.40
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, MIM# 613744

Green AP4E1 in Hereditary spastic paraplegia - childhood onset


Version 2.19
Signed off v.2.18 on 8 Oct 2020

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, 613744

Green AP4E1 in Hereditary spastic paraplegia - adult onset


Version 1.13
Signed off v.1.12 on 15 Oct 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, 613744

Red AP4E1 in Neurodegenerative disorders - adult onset


Version 2.32
Signed off v.2.31 on 8 Oct 2020

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

Green AP4E1 in Fetal anomalies


Version 1.108
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4

Green AP4E1 in DDG2P


Version 2.11
Signed off v.2.2 on 13 Feb 2020

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.499
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, 613744
    • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4

    Green AP4E1 in Severe Paediatric Disorders


    Version 1.12

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 51, autosomal recessive, 613744
    • Stuttering, familial persistent, 1, 184450