PanelApp (staging)
  1. Genes and Genomic Entities
  2. SORD

SORD

sorbitol dehydrogenase
OMIM: 182500, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SORD in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated hereditary neuropathy
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912

Green SORD in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.51

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • isolated hereditary neuropathy
    • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912

    Red SORD in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912
    Tags
    • treatable
    • metabolic