NDC1

NDC1 transmembrane nucleoporin
OMIM: 610115, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NDC1 in Mendeliome


Version 1.3098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328

Green NDC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.294

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328

Green NDC1 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.31

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328