Ichthyosis
Gene: PHYH
PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature.
Sources: Expert listCreated: 31 Jan 2020, 6:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease MIM#266500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Refsum disease MIM#266500
- OMIM
- 602026
- Clinvar variants
- Variants in PHYH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
31 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phyh has been classified as Red List (Low Evidence).
31 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PHYH was added gene: PHYH was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYH were set to 25604618; 9326940 Phenotypes for gene: PHYH were set to Refsum disease MIM#266500 Review for gene: PHYH was set to RED