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Hereditary neuropathy or pain disorder v6.148 PHYH Sarah Leigh Tag Q3_24_promote_green was removed from gene: PHYH.
Tag Q3_24_NHS_review was removed from gene: PHYH.
Hereditary neuropathy or pain disorder v6.148 PHYH Sarah Leigh reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 PHYH Sarah Leigh Source Expert Review Green was added to PHYH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Classified gene: PHYH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Added comment: 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.
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Gene: phyh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.97 PHYH Achchuthan Shanmugasundram Phenotypes for gene: PHYH were changed from Hereditary Neuropathies to Refsum disease, OMIM:266500
Hereditary neuropathy or pain disorder v6.96 PHYH Achchuthan Shanmugasundram Publications for gene: PHYH were set to
Hereditary neuropathy or pain disorder v6.95 PHYH Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHYH.
Tag Q3_24_NHS_review tag was added to gene: PHYH.
Hereditary neuropathy or pain disorder v6.95 PHYH Achchuthan Shanmugasundram reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2433405, 9326940, 10767344, 20301527; Phenotypes: Refsum disease, OMIM:266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 PHYH Alexander Rossor edited their review of gene: PHYH: Added comment: 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 phenotypes; Changed publications to: 9326940; Changed phenotypes to: Refsums diseasd; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty commented on gene: PHYH: 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/.
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Classified gene: PHYH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Added comment: 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)
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Gene: phyh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 PHYH Ellen McDonagh 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