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Hereditary neuropathy or pain disorder v6.148 ZFYVE26 Sarah Leigh Tag Q3_24_promote_green was removed from gene: ZFYVE26.
Tag Q3_24_NHS_review was removed from gene: ZFYVE26.
Hereditary neuropathy or pain disorder v6.148 ZFYVE26 Sarah Leigh reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 ZFYVE26 Sarah Leigh Source Expert Review Green was added to ZFYVE26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.82 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary neuropathy or pain disorder v6.81 ZFYVE26 Arina Puzriakova Publications for gene: ZFYVE26 were set to
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Classified gene: ZFYVE26 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy is a reported feature in at least 5 unrelated families with SPG15. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.79 ZFYVE26 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: ZFYVE26.
Tag Q3_24_NHS_review tag was added to gene: ZFYVE26.
Hereditary neuropathy or pain disorder v5.19 ZFYVE26 Alexander Rossor edited their review of gene: ZFYVE26: Added comment: phenotypically similar to SPG11; Changed publications to: 26492578:27217339: 24833714
Hereditary neuropathy or pain disorder v0.86 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP
Hereditary neuropathy or pain disorder v0.84 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: 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 v0.83 ZFYVE26 Louise Daugherty Source Expert Review Amber was added to ZFYVE26.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.1 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700