This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PHYH
PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 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
-
- Retinal disorders
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Glaucoma (developmental)
- Hereditary neuropathy
- Childhood onset dystonia, chorea or related movement disorder
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