Peroxisomal Disorders
Gene: PHYH

PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells.

Well established gene-disease association.
Created: 27 Apr 2022, 4:19 a.m. | Last Modified: 27 Apr 2022, 4:19 a.m.

Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Refsum disease, MIM# 266500

Publications

Created: 27 Apr 2022, 4:19 a.m.
Last Modified: 27 Apr 2022, 4:19 a.m.
Panel version: 0.30

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Refsum disease, MIM# 266500

OMIM

602026

Clinvar variants

Variants in PHYH

Penetrance

None

Publications

Panels with this gene