PanelApp (stage)
  1. Genes and Genomic Entities
  2. MTCL1

MTCL1

microtubule crosslinking factor 1
OMIM: 615766, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MTCL1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • slowly progressive cerebellar ataxia
  • mild intellectual disability
  • seizures
  • episodic pain
  • spinocerebellar ataxia

Amber MTCL1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • spinocerebellar ataxia

    Green MTCL1 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
    • Royal Melbourne Hospital
    Phenotypes
    • slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs