CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2
OMIM: 607803, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CNNM2 in Unexplained young onset end-stage renal disease


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
    • renal hypomagnesemia 6, MONDO:0013480
    • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
    • Hypomagnesemia 6, renal, OMIM:613882
    Green CNNM2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.620

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
    • Hypomagnesemia 6, renal 613882
    • Hypomagnesemia, seizures, and mental retardation 616418
    Green CNNM2 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
    • Hypomagnesemia 6, renal 613882
    • Hypomagnesemia, seizures, and mental retardation 616418
    Green CNNM2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CNNM2-related neurodevelopmental disorder with hypomagnesemia
    • autosomal recessive form
    Green CNNM2 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypomagnesemia 6, renal, OMIM:613882
    • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
    • renal hypomagnesemia 6, MONDO:0013480
    • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
    Green CNNM2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
    • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
    Green CNNM2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
    • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
    Red CNNM2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CNNM2 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypomagnesemia, seizures, and mental retardation, 616418
    • Hypomagnesemia 6, renal, 613882