Severe microcephalyGene: TRMT1
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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.
Created: 14 May 2019, 1:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Non‐syndromal congenital microcephaly
Source NHS GMS was added to TRMT1.
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