FLVCR1

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

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Red FLVCR1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

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


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Retinopathy-sensory neuropathy syndrome, OMIM:609033
    • posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
    Green FLVCR1 in Limb disorders


    Level 2: Musculoskeletal
    Version 9.4
    Latest signed off version: v9.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Green FLVCR1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    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
    Green FLVCR1 in Severe microcephaly


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.13 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Green FLVCR1 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Red FLVCR1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • 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,
    Green FLVCR1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Green FLVCR1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 1.513

    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 Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Green FLVCR1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
    • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
    Green FLVCR1 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Retinopathy-sensory neuropathy syndrome, OMIM:609033
    • posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
    Green FLVCR1 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinopathy-sensory neuropathy syndrome, OMIM:609033
    • posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
    Red FLVCR1 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033
    • Eye Disorders
    Green FLVCR1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.32
    Latest signed off version: v8.30 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033
    • posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
    Red FLVCR1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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