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Inborn errors of metabolism

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Refsum disease, 266500
  • Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PHYH. Source London North GLH was added to PHYH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PHYH was added gene: PHYH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYH were set to 27604308 Phenotypes for gene: PHYH were set to Refsum disease, 266500; Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)