Peroxisomal biogenesis disorders

Gene: PHYH

Amber List (moderate evidence)

PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 11 panels

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Details

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

History Filter Activity

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PHYH was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PHYH was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PHYH was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen