Palmoplantar keratodermas
Gene: PHYHEnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27
Sarah Leigh (Genomics England Curator)
Although PHYH variants are associated with Ichthyosis, there is no evidence for an association with palmoplantar keratodermas in the literature.Created: 1 Feb 2024, 2:23 p.m. | Last Modified: 1 Feb 2024, 2:23 p.m.
Panel Version: 3.23
Zornitza Stark (Australian Genomics)
Ichthyosis is a feature of Refsum disease, cannot find reports of PPK.Created: 19 Aug 2020, 6:22 a.m. | Last Modified: 19 Aug 2020, 6:22 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease (MIM#266500)
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PHYH; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Phenotypes
-
- Refsum disease, OMIM:266500
- OMIM
- 602026
- Clinvar variants
- Variants in PHYH
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Palmoplantar keratodermas
- Hereditary neuropathy
- Peroxisomal disorders
- Structural eye disease
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: PHYH. Tag Q1_24_expert_review was removed from gene: PHYH.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to PHYH. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, OMIM:266500
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_demote_red tag was added to gene: PHYH. Tag Q1_24_expert_review tag was added to gene: PHYH.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PHYH.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PHYH was added gene: PHYH was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease