1. Panels
  2. Hereditary Neuropathy - complex
  3. PHYH
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is a feature.
Created: 8 Aug 2023, 6:39 a.m. | Last Modified: 8 Aug 2023, 6:39 a.m.
Panel Version: 0.227

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Refsum Disease MIM#266500

Created: 8 Aug 2023, 6:39 a.m.
Last Modified: 8 Aug 2023, 6:39 a.m.
Panel version: 0.227

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis.

Polyneuropathy has been identified as a clinical feature in approximately 70% of diagnosed cases of Adult Refsum disease.

PMID: 2433405
Neuropathy is identified in some individuals with Refsum Disease.
Created: 7 Aug 2023, 6:50 a.m. | Last Modified: 7 Aug 2023, 6:50 a.m.
Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adult Refsum Disease MIM#266500

Publications

Created: 7 Aug 2023, 6:50 a.m.
Last Modified: 7 Aug 2023, 6:50 a.m.
Panel version: 0.215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Refsum Disease MIM#266500
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phyh has been classified as Green List (High Evidence).

8 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500

8 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHYH were set to

13 Jan 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 Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease