Hereditary neuropathy
Gene: PHYH
PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 10 panels
6 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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)
RefsumsCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
RefsumsCreated: 8 Dec 2015, 3:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 602026
- Clinvar variants
- Variants in PHYH
- Penetrance
- Complete
- 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
29 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PHYH.
29 Apr 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PHYH. Rating Changed from Green List (high evidence) to Green List (high evidence)
8 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 May 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PHYH was changed to BIALLELIC, autosomal or pseudoautosomal
20 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PHYH was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PHYH was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN