Peroxisomal disorders

Gene: PHYH

Green List (high evidence)

PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least eight variants reported
Created: 22 Aug 2016, 10:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Refsum disease, 266500
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PHYH were set to Refsum disease, 266500

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

PHYH was added to Peroxisomal disorderspanel. Sources: UKGTN,Emory Genetics Laboratory

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PHYH was added to Peroxisomal disorderspanel. Source: Expert list

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PHYH was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PHYH was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services