KIAA1161

myogenesis regulating glycosidase (putative)
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KIAA1161 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
    • Primary familial brain calcification
    • Atypical parkinsonism
    • Supranuclear gaze palsy
    Tags
    • new gene name

    Green KIAA1161 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, MIM#618317
    Tags
    • new gene name

    Green KIAA1161 in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, MIM #618317
    • primary familial brain calcifications (PFBC)
    • ataxia
    • dysarthria
    • cerebellar atrophy
    • akinetic-hypertonic syndrome
    Tags
    • new gene name

    Green KIAA1161 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
    • paroxysmal dyskinesia
    • brain calcification
    • episodic hemiparesis