Ataxia - paediatric
Gene: PHYHEnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is part of the phenotype.Created: 17 Apr 2020, 2:52 a.m. | Last Modified: 17 Apr 2020, 2:52 a.m.
Panel Version: 0.173
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease, MIM# 266500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- GeneReviews
- Phenotypes
-
- Refsum disease, MIM# 266500
- OMIM
- 602026
- Clinvar variants
- Variants in PHYH
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phyh has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PHYH was added gene: PHYH was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease