POC1B

POC1 centriolar protein B
OMIM: 614784
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 20, 615973