NDC1

NDC1 transmembrane nucleoporin
OMIM: 610115, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NDC1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.508

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, OMIM:621328
  • neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MONDO:0979875
Green NDC1 in Hereditary neuropathy or pain disorder


Level 2: Neurology
Version 7.45
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, OMIM:621328
  • neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MONDO:0979875