Hereditary ataxia with onset in adulthood
Gene: ZFYVE26
Several families but more suited to an HSP panel. Not on Ox or Shef. Ataxia may be part of phenotype.Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. Comment: Complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.Created: 15 Apr 2019, 10:21 a.m.
Plenty of cases and variants in the literature - ataxia and cerebellar abnormalities reported as part of OMIM phenotypeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic paraplegia 15, 270700
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mode of pathogenicity for gene: ZFYVE26 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: ZFYVE26 were changed from Autosomal recessive spastic paraplegia 15, 270700; Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. to Autosomal recessive spastic paraplegia 15, 270700; Autosomal recessive spastic paraplegia 15, 270700
Gene: zfyve26 has been classified as Green List (High Evidence).
Source London North GMS was added to ZFYVE26.
Added phenotypes Autosomal recessive spastic paraplegia 15, 270700 for gene: ZFYVE26
Source NHS GMS was added to ZFYVE26.
Source Wessex and West Midlands GLH was added to ZFYVE26.
Louise Daugherty: Comment on phenotypes: Implica
gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 25842392; 25497598 Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.