PanelApp
  1. Genes and Genomic Entities
  2. SFPQ

SFPQ

splicing factor proline and glutamine rich
OMIM: 605199, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red SFPQ in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.11

Component of the following Super Panels:

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

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis, MONDO:0004976, SFPQ-related

    Red SFPQ in Incidentalome


    Version 1.8

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis, MONDO:0004976, SFPQ-related