Genomics England
GMS Panels
Panels
Genes and Entities

RETREG1

reticulophagy regulator 1
OMIM: 613114
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.66
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type II, Neuropathy, hereditary sensory and autonomic, type IIB, 613115