TRPM6

transient receptor potential cation channel subfamily M member 6
OMIM: 607009, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red TRPM6 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hypomagnesemia 1, intestinal, MIM# 602014

Green TRPM6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal, MIM#602014

Green TRPM6 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal, 602014 (3)

Green TRPM6 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism

Green TRPM6 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal, 602014 (3)

Green TRPM6 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MIM#602014
Tags
  • treatable
  • endocrine

Green TRPM6 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
Phenotypes
  • Hypomagnesaemia 1, intestinal (MIM#602014)

Green TRPM6 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MIM#602014