Genomics England
GMS Panels
Panels
Genes and Entities

POC5

POC5 centriolar protein
PanelMode of inheritanceDetails
3 panels
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, diabetes mellitus, lipodystrophy, renal failure, abnormal muscle physiology
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, diabetes mellitus, lipodystrophy, renal failure, abnormal muscle physiology
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, diabetes mellitus, lipodystrophy, renal failure, abnormal muscle physiology, muscle cramps