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 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green FLVCR1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 1.332

    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 1.12

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • insensitivity to pain
    • neurodevelopmental delay
    • joint hypermobility
    • scoliosis
    • dysautonomia
    Red FLVCR1 in Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
    Green FLVCR1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 1.476

    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
    Red FLVCR1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
    Green FLVCR1 in Hereditary ataxia with onset in adulthood


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    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 or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    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, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green FLVCR1 in Severe Paediatric Disorders


    Version 1.182

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