Severe microcephaly

Gene: TRMT1

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Added TRMT1 to the microcephaly panel based on PMID:30289604 (Blaesius et al., 2018) who report 4 patients from 2 unrelated consanguineous Pakistani families with homozygous variants in TRMT1 and intellectual disability. Non‐syndromal microcephaly was diagnosed at birth in three of the patients (V:2 from Family 1 (OFC -4.9 SD), and III.3 (OFC -4.1 SD) and III.4 (OFC -4 SD) from Family 2). The authors note that the clinical features are reminiscent of autosomal recessive primary microcephaly (MCPH). Rated as Red awaiting further cases.
Sources: Literature
Created: 14 May 2019, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non‐syndromal congenital microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Non‐syndromal congenital microcephaly
OMIM
611669
Clinvar variants
Variants in TRMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TRMT1 was added gene: TRMT1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to 30289604 Phenotypes for gene: TRMT1 were set to Non‐syndromal congenital microcephaly Review for gene: TRMT1 was set to RED