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Genetic Epilepsy

Gene: TRMT1

Green List (high evidence)

TRMT1 (tRNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000104907
EnsemblGeneIds (GRCh37): ENSG00000104907
OMIM: 611669, Gene2Phenotype
TRMT1 is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Rarely reported gene

Seizures (in some patients) described in OMIM.

PMID: 31898845 - homozygous missense in a proband with developmental delay, ID, and epilepsy. Functional studies support pathogenicity of the missense.

PMID: 26308914 - family with a homozygous PTC. The patients did not manifest any other neurological problems, ie. NO seizures.

PMID: 30289604 - two families (total 4 affected) with hom PTC and canonical splice. All had seizures.
Sources: Literature
Created: 23 Feb 2024, 12:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 68 MIM#618302

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 68 MIM#618302
OMIM
611669
Clinvar variants
Variants in TRMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: trmt1 has been classified as Green List (High Evidence).

23 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: trmt1 has been classified as Green List (High Evidence).

23 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: trmt1 has been classified as Red List (Low Evidence).

23 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TRMT1 was added gene: TRMT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to PMID: 31898845; 26308914; 30289604 Phenotypes for gene: TRMT1 were set to Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Review for gene: TRMT1 was set to GREEN