Genomics England
GMS Panels
Panels
Genes and Entities

NDC1

NDC1 transmembrane nucleoporin
OMIM: 610115
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, OMIM:621328, neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MONDO:0979875