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  3. TRMT10A
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Genetic Epilepsy

Gene: TRMT10A

Green List (high evidence)
TRMT10A (tRNA methyltransferase 10A)
EnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 11 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Epilepsy is reported with cortical malformations, or due to glycaemic control issues but also at varying ages without malformations or low/high blood sugar.
Sources: Literature, Expert Review, Expert list
Created: 23 Nov 2023, 4:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; diabetes; intellectual disability; epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Nov 2023, 4:02 a.m.

Panel version: 0.1947

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
OMIM
616013
Clinvar variants
Variants in TRMT10A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Green List (High Evidence).

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRMT10A were changed from microcephaly; diabetes; intellectual disability; epilepsy to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Green List (High Evidence).

23 Nov 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: TRMT10A was added gene: TRMT10A was added to Genetic Epilepsy. Sources: Literature,Expert Review,Expert list Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26535115; 4995728 Phenotypes for gene: TRMT10A were set to microcephaly; diabetes; intellectual disability; epilepsy Penetrance for gene: TRMT10A were set to unknown Review for gene: TRMT10A was set to GREEN gene: TRMT10A was marked as current diagnostic