AP3B2

adaptor related protein complex 3 beta 2 subunit
OMIM: 602166, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber AP3B2 in Optic neuropathy


Level 2: Ophthalmology
Version 6.51
Latest signed off version: v6.46 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000
Tags
  • watchlist
Amber AP3B2 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 Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic Encephalopathy with Optic Atrophy
Green AP3B2 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
    • Epileptic Encephalopathy with Optic Atrophy
    Green AP3B2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 48 617276
    Green AP3B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    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
    Phenotypes
    • Epileptic encephalopathy, early infantile, 48 617276
    Red AP3B2 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000