SMPDL3A:Ensemblv90

sphingomyelin phosphodiesterase acid like 3A
OMIM: 610728, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SMPDL3A in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy MONDO:0002321, SMPDL3A-related

Red SMPDL3A in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 0.36

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Sensory Neuropathy MONDO:0002321, SMPDL3A-related

    Red SMPDL3A in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Sensory Neuropathy MONDO:0002321, SMPDL3A-related