Genomics England
GMS Panels
Panels
Genes and Entities

PHYH

phytanoyl-CoA 2-hydroxylase
OMIM: 602026
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease, OMIM:266500
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease, 266500, Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Refsum disease