ACTL6B

actin like 6B
OMIM: 612458, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ACTL6B in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470

Green ACTL6B in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 76, MIM# 618468
  • Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470

Green ACTL6B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 76, MIM# 618468
    • Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470

    Green ACTL6B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 76, MIM# 618468
    • Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470