ACBD6

acyl-CoA binding domain containing 6
OMIM: 616352, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ACBD6 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785

Green ACBD6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785

Green ACBD6 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785

    Green ACBD6 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785

    Amber ACBD6 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785