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Hereditary neuropathy NOT PMP22 copy number

Gene: PHYH

Amber List (moderate evidence)

PHYH (phytanoyl-CoA 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000107537
EnsemblGeneIds (GRCh37): ENSG00000107537
OMIM: 602026, Gene2Phenotype
PHYH is in 11 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Cause of Refsum; neuropathy a major feature though other features should be expected
Created: 8 Jul 2016, 4:04 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Refsums
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Refsums
Created: 8 Dec 2015, 3:05 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary Neuropathies
OMIM
602026
Clinvar variants
Variants in PHYH
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: phyh has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

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