Genomics England
GMS Panels
Panels
Genes and Entities

NXN

nucleoredoxin
OMIM: 612895
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robinow syndrome, autosomal recessive 2, OMIM:618529, Robinow syndrome, autosomal recessive 2, MONDO:0032800
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robinow syndrome, autosomal recessive 2, OMIM:618529