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Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Created: 5 Dec 2019, 11:51 a.m. | Last Modified: 5 Dec 2019, 11:51 a.m.
Panel Version: 0.524

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 68; OMIM #618302

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: TRMT1 were changed from Mental retardation, autosomal recessive 68; OMIM #618302 to Intellectual developmental disorder, autosomal recessive 68 MIM#618302

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 3

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene TRMT1 were changed from PMID: 30289604; 26308914; 21937992 to PMID: 30289604; 26308914; 21937992

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TRMT1. Source Expert list was added to TRMT1. Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302 Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRMT1 was added gene: TRMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRMT1 was set to Unknown