GRM1

glutamate metabotropic receptor 1
OMIM: 604473, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GRM1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 44 MIM#617691
  • Spinocerebellar ataxia, autosomal recessive 13 MIM#614831

Green GRM1 in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cerebellar ataxia MONDO:0000437
    • Glutamate neurotransmitter disorders

    Green GRM1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GRM1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green GRM1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 13
    • Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831

    Green GRM1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)

    Red GRM1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 13 MIM#614831

    Green GRM1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)