ZFYVE26

zinc finger FYVE-type containing 26
OMIM: 612012, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Amber ZFYVE26 in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, OMIM:270700
    Tags
    • Q2_21_rating

    Red ZFYVE26 in Ataxia and cerebellar anomalies - narrow panel


    Version 2.239
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • 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.

    Green ZFYVE26 in White matter disorders - adult onset


    Version 1.31
    Latest signed off version: v1.25 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, 270700

    Red ZFYVE26 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.244

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • 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.

    Red ZFYVE26 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, MIM#270700

    Green ZFYVE26 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.259

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive

    Green ZFYVE26 in Hereditary spastic paraplegia - childhood onset


    Version 2.84
    Latest signed off version: v2.18 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, 270700

    Green ZFYVE26 in Hereditary spastic paraplegia - adult onset


    Version 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, 270700

    Red ZFYVE26 in Neurodegenerative disorders - adult onset


    Version 2.200
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive
    • 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.

    Red ZFYVE26 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15

    Green ZFYVE26 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700

    Green ZFYVE26 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.416

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, 270700
    • 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

    Green ZFYVE26 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 (SPG15)

    Green ZFYVE26 in Hereditary ataxia - adult onset


    Version 2.88
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal recessive spastic paraplegia 15, 270700
    • Autosomal recessive spastic paraplegia 15, 270700

    Amber ZFYVE26 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.219
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive OMIM:270700
    Tags
    • Q2_21_rating

    Amber ZFYVE26 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.63
    Latest signed off version: v1.36 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • 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

    Green ZFYVE26 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 15, autosomal recessive, 270700