Hereditary neuropathy or pain disorder
Gene: PHYHEnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels
8 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a part of Refsum disease (MIM #266500). OMIM record lists peripheral sensorimotor neuropathy as one of the clinical manifestations. In addition, PMID:20301527 reports that polyneuropathy is present in ~70% of cases with Refsum disease.
Hence, this gene can be promoted to green rating in the next GMS update.Created: 5 Nov 2024, 2:37 p.m. | Last Modified: 5 Nov 2024, 2:37 p.m.
Panel Version: 6.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease, OMIM:266500
Publications
Louise Daugherty (Genomics England Curator)
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:25 p.m. | Last Modified: 6 Dec 2019, 8:25 p.m.
Panel Version: 0.63
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)Created: 6 Dec 2019, 8:23 p.m. | Last Modified: 6 Dec 2019, 8:23 p.m.
Panel Version: 0.63
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Richard Scott (Genomics England Curator)
Comment on list classification: Cause of Refsum; neuropathy a major feature though other features should be expectedCreated: 8 Jul 2016, 4:04 a.m.
Alexander Rossor (UCL Institute of Neurology)
Refsums disease is a well established (historical) cause of peripheral neuropathy. It is treatable and has to be included in the R78 panel now that it includes complex phenotypesCreated: 20 Oct 2024, 10:27 a.m. | Last Modified: 20 Oct 2024, 10:27 a.m.
Panel Version: 5.19
RefsumsCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsums diseasd
Publications
Mary Reilly (Institute of Neurology)
RefsumsCreated: 8 Dec 2015, 3:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Refsum disease, OMIM:266500
- OMIM
- 602026
- Clinvar variants
- Variants in PHYH
- Penetrance
- None
- Publications
- 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
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: PHYH. Tag Q3_24_NHS_review was removed from gene: PHYH.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to PHYH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: phyh has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PHYH were changed from Hereditary Neuropathies to Refsum disease, OMIM:266500
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PHYH were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: PHYH. Tag Q3_24_NHS_review tag was added to gene: PHYH.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: phyh has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PHYH was added gene: PHYH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Hereditary Neuropathies