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 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    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