Hereditary neuropathy or pain disorder
Gene: ZFYVE26EnsemblGeneIds (GRCh38): ENSG00000072121
EnsemblGeneIds (GRCh37): ENSG00000072121
OMIM: 612012, Gene2Phenotype
ZFYVE26 is in 16 panels
7 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
Arina Puzriakova (Genomics England Curator)
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.Created: 5 Nov 2024, 11:25 a.m. | Last Modified: 5 Nov 2024, 11:25 a.m.
Panel Version: 6.80
Louise Daugherty (Genomics England Curator)
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: HSPCreated: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
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, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
phenotypically similar to SPG11Created: 20 Oct 2024, 11:17 a.m. | Last Modified: 20 Oct 2024, 11:17 a.m.
Panel Version: 5.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
Publications
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- South West GLH
- Emory Genetics Laboratory
- London North GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Spastic paraplegia 15, autosomal recessive, OMIM:270700
- OMIM
- 612012
- Clinvar variants
- Variants in ZFYVE26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ZFYVE26. Tag Q3_24_NHS_review was removed from gene: ZFYVE26.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to ZFYVE26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ZFYVE26 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ZFYVE26. Tag Q3_24_NHS_review tag was added to gene: ZFYVE26.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to ZFYVE26. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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