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Genetic Epilepsy

Gene: TRIP12

Amber List (moderate evidence)

TRIP12 (thyroid hormone receptor interactor 12)
EnsemblGeneIds (GRCh38): ENSG00000153827
EnsemblGeneIds (GRCh37): ENSG00000153827
OMIM: 604506, Gene2Phenotype
TRIP12 is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Seizures described as a rare feature in OMIM

PMID: 36275919 - patient with GDD, hypotonia and intermittent seizures. De novo synonymous variant with proven splice outcome found.

PMID: 32424948 - reviews, epilepsy observed in 21% (5/24) patients
Sources: Literature
Created: 22 Feb 2024, 11:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual developmental disorder, autosomal dominant 49 MIM#617752

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 49 MIM#617752
OMIM
604506
Clinvar variants
Variants in TRIP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: trip12 has been classified as Amber List (Moderate Evidence).

22 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: trip12 has been classified as Amber List (Moderate Evidence).

22 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TRIP12 was added gene: TRIP12 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIP12 were set to PMID: 36275919; 32424948 Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49 MIM#617752 Review for gene: TRIP12 was set to AMBER