UBAP2L

ubiquitin associated protein 2 like
OMIM: 616472, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UBAP2L in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494

Green UBAP2L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
    • Delayed speech and language development
    • Motor delay
    • Intellectual disability
    • Autistic behavior
    • Seizures
    • Microcephaly
    • Abnormality of head or neck
    • Short stature
    • Abnormality of the skeletal system

    Green UBAP2L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
    • Delayed speech and language development
    • Motor delay
    • Intellectual disability
    • Autistic behavior
    • Seizures
    • Microcephaly
    • Abnormality of head or neck
    • Short stature
    • Abnormality of the skeletal system