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  3. TRPM6
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Brain Calcification

Gene: TRPM6

Red List (low 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

Yetong Chen (University of Melbourne)

Red List (low evidence)

Insufficient evidence supports the gene-disease association.
PMID 22982920 reports a patient with a novel homozygous variant (ins 2999T) of the TRPM6 gene who had bilateral basal ganglia calci­fication. The authors state that brain calcification has never been reported in hypomagnesemia patients before.
Sources: Expert list
Created: 3 May 2023, 4:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 1, intestinal, MIM# 602014

Publications

Created: 3 May 2023, 4:21 p.m.

Panel version: 1.76

Details

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

History Filter Activity

4 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm6 has been classified as Red List (Low Evidence).

4 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm6 has been classified as Red List (Low Evidence).

3 May 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: TRPM6 was added gene: TRPM6 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to 22982920 Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM# 602014 Review for gene: TRPM6 was set to RED