AP1S2

adaptor related protein complex 1 sigma 2 subunit
OMIM: 300629, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green AP1S2 in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Red AP1S2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green AP1S2 in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    • Calcifications in basal ganglia
    Green AP1S2 in Ataxia and cerebellar anomalies - narrow panel


    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.35

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    • Calcifications in basal ganglia
    Red AP1S2 in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 59 300630
    Green AP1S2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Amber AP1S2 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Red AP1S2 in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    Green AP1S2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Pettigrew syndrome, OMIM:304340
    • Dystonia
    Green AP1S2 in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked syndromic 5, 304340