TRPM7

transient receptor potential cation channel subfamily M member 7
OMIM: 605692, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber TRPM7 in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • macrothrombocytopenia
Amber TRPM7 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hypomagnesaemia with secondary hypocalcaemia
    Tags
    • Q1_25_ promote_green
    Red TRPM7 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500
    • Cardiac arrhythmia, stillbirth
    Amber TRPM7 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hypomagnesaemia with secondary hypocalcaemia
    Tags
    • Q1_25_ promote_green