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BabyScreen+ newborn screening

Gene: PHYH

Red List (low evidence)

PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 12 panels

1 review

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

onset generally after 5 yr - retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances; some have cerebellar ataxia; anosmia, progressive hearing loss

treatment: phytanic acid restricted diet (PMID: 20547622)
Created: 1 Nov 2022, 12:07 p.m. | Last Modified: 1 Nov 2022, 12:07 p.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa with night blindness, cataracts; polyneuropathy including sensory disturbances; cerebellar ataxia; anosmia, progressive hearing loss

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Refsum disease, MIM# 266500
Tags
treatable
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2022, 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).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500

2 Nov 2022, 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).

2 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PHYH.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHYH was added gene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease