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  3. PHYH
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Syndromic Retinopathy

Gene: PHYH

Green List (high evidence)
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, 4:17 a.m. | Last Modified: 27 Apr 2022, 4:17 a.m.
Panel Version: 0.13390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Refsum disease, MIM# 266500

Publications

Created: 17 Apr 2020, 2:52 a.m.
Last Modified: 17 Apr 2020, 2:52 a.m.
Panel version: Imported from Mendeliome panel version 0.13390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Refsum disease
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PHYH was added gene: PHYH was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease