FLVCR1

feline leukemia virus subgroup C cellular receptor 1
OMIM: 609144, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red FLVCR1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green FLVCR1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.39
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Posterior Column Ataxia with Retinitis Pigmentosa
    • Ataxia, posterior column, with retinitis pigmentosa,

    Green FLVCR1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa,
    • Posterior Column Ataxia with Retinitis Pigmentosa

    No list FLVCR1 in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • insensitivity to pain
    • neurodevelopmental delay
    • joint hypermobility
    • scoliosis
    • dysautonomia

    Red FLVCR1 in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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
    • Posterior Column Ataxia with Retinitis Pigmentosa
    • Ataxia, posterior column, with retinitis pigmentosa,

    Red FLVCR1 in Fetal anomalies


    Version 1.177
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA

    Green FLVCR1 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033

    Green FLVCR1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.381

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033
    • Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI

    Green FLVCR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.717
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
    Tags
    • for-review

    Green FLVCR1 in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Posterior Column Ataxia with Retinitis Pigmentosa
    • Posterior column ataxia with retinitis pigmentosa, 609033
    • Ataxia, posterior column, with retinitis pigmentosa,

    Green FLVCR1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.120
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Posterior Column Ataxia with Retinitis Pigmentosa
    • Ataxia, posterior column, with retinitis pigmentosa, 609033
    • Retinitis pigmentosa

    Red FLVCR1 in Structural eye disease


    Version 1.42
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033
    • Eye Disorders

    Amber FLVCR1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033
    • Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI

    Red FLVCR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.72
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FLVCR1 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033