1. Genes and Genomic Entities
  2. AP1B1

AP1B1

adaptor related protein complex 1 beta 1 subunit
OMIM: 600157, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red AP1B1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MEDNIK-like Syndrome
    Amber AP1B1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Failure to thrive
    • Abnormality of the skin
    • Hearing abnormality
    • Abnormality of copper homeostasis
    • Global developmental delay
    • Intellectual disability