PanelApp (stage)
  1. Genes and Genomic Entities
  2. SS18L1

SS18L1

SS18L1, nBAF chromatin remodeling complex subunit
OMIM: 606472, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SS18L1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

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

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • amyotrophic lateral sclerosis (MONDO:0004976)

    Amber SS18L1 in Incidentalome


    Version 0.301

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • amyotrophic lateral sclerosis (MONDO:0004976)