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  3. TRPM6
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BabyScreen+ newborn screening

Gene: TRPM6

Green List (high evidence)
TRPM6 (transient receptor potential cation channel subfamily M member 6)
EnsemblGeneIds (GRCh38): ENSG00000119121
EnsemblGeneIds (GRCh37): ENSG00000119121
OMIM: 607009, Gene2Phenotype
TRPM6 is in 9 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Hypomagnaesemia and hypocalcaemia
Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009).
Sources: Expert list
Created: 16 Mar 2023, 3:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 1, intestinal MIM#602014

Publications

Created: 16 Mar 2023, 3:34 a.m.

Panel version: 0.1982

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomagnesemia 1, intestinal MIM#602014
Tags
treatable endocrine
OMIM
607009
Clinvar variants
Variants in TRPM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm6 has been classified as Green List (High Evidence).

16 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm6 has been classified as Green List (High Evidence).

16 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TRPM6. Tag endocrine tag was added to gene: TRPM6.

16 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: TRPM6 was added gene: TRPM6 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to PMID: 35903165, PMID: 18818955 Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MIM#602014 Review for gene: TRPM6 was set to GREEN