PanelApp
  1. Genes and Genomic Entities
  2. MTCL1

MTCL1

microtubule crosslinking factor 1
OMIM: 615766, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MTCL1 in Mendeliome


Version 1.3802

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

Green MTCL1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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