PanelApp
  1. Genes and Genomic Entities
  2. FLVCR1

FLVCR1

FLVCR choline and heme transporter 1
OMIM: 609144, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green FLVCR1 in Mendeliome


Version 2.50

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060

Green FLVCR1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060

Green FLVCR1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092, FLVCR1-related

    Green FLVCR1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092, FLVCR1-related

    Green FLVCR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092, FLVCR1-related

    Green FLVCR1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa MIM#609033

    Green FLVCR1 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033

    Green FLVCR1 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033

    Green FLVCR1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.2

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • RetNet
    • Expert Review Green
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033

    Green FLVCR1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)

    Green FLVCR1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092, FLVCR1-related

    Green FLVCR1 in Fetal anomalies


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092, FLVCR1-related
    • Ataxia, posterior column, with retinitis pigmentosa, MIM#609033

    Green FLVCR1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related