TRPM4

transient receptor potential cation channel subfamily M member 4
OMIM: 606936, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TRPM4 in Mendeliome


Version 1.2512

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive familial heart block, type IB, MIM# 604559
  • Erythrokeratodermia variabilis et progressiva 6, MIM# 618531

Amber TRPM4 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.134

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 6, MIM# 618531

Green TRPM4 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cardiac conduction disease

Amber TRPM4 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.117

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category A gene
Phenotypes
  • Progressive familial heart block, type IB 604559
Tags
  • for review
  • cardiac

Amber TRPM4 in Cardiac conduction disease


Level 2: Cardiovascular disorders
Version 1.0

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • progressive familial heart block type IB MONDO:0011474