Microcephaly
Gene: TRIT1

TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 9 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

PMID 32088416 summarises the findings from 3 previous publications and presents a new patient, for a total of 8 individuals from 6 families. 7/8 were noted to have microcephaly - the last was unrecorded. 4 had postnatal microcephaly, while 2 had microcephaly at birth (0.4th percentile). These were the only head circumference measurements provided by the original publications.

Rated Amber because although there are 7 individuals from 5 families with microcephaly reported, we only have the measurements (in the form of percentiles) for two. Some individuals also presented at birth while some had progressive microcephaly, though these individuals all had different variants.
Created: 2 Sep 2020, 10:49 a.m. | Last Modified: 2 Sep 2020, 10:49 a.m.

Panel Version: 0.355

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 35 MIM#617873

Publications

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

Created: 2 Sep 2020, 10:49 a.m.
Last Modified: 2 Sep 2020, 10:49 a.m.
Panel version: 0.355

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Combined oxidative phosphorylation deficiency 35 MIM#617873

Clinvar variants

Variants in TRIT1

Penetrance

None

Publications

Panels with this gene