This Panel is marked as Retired
Epileptic encephalopathy
Gene: TRPM6
TRPM6 (transient receptor potential cation channel subfamily M member 6)
EnsemblGeneIds (GRCh38): ENSG00000119121
EnsemblGeneIds (GRCh37): ENSG00000119121
OMIM: 607009, Gene2Phenotype
TRPM6 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000119121
EnsemblGeneIds (GRCh37): ENSG00000119121
OMIM: 607009, Gene2Phenotype
TRPM6 is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 21 Mar 2017, 2:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 1, intestinal 602014
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hypomagnesemia 1, intestinal 602014
- OMIM
- 607009
- Clinvar variants
- Variants in TRPM6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
21 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)TRPM6 was added to Epileptic encephalopathypanel. Sources: Expert Review
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TRPM6 was created by sleigh