Severe microcephalyGene: GTF2E2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - two distinct homozygous variants identified in 5 individuals from 4 families who all had microcephaly among other features. Supportive in vitro studies that demonstrate functional impairment.
Created: 30 Sep 2021, 2:21 p.m. | Last Modified: 30 Sep 2021, 2:21 p.m.
Panel Version: 2.253
Four individuals from 3 different Moroccan families with the same homozygous variant (c.C559T) in the GTF2E2 gene have been identified, as well as an additional patient from Asian origin with a distinct homozygous variant (c.448G>C). Predominant phenotype was that of trichothiodystrophy; however, all 5 individuals also had ID/DD, microcephaly and ichthyosis - and therefore adding GTF2E2 to these relevant panel.
Created: 30 Sep 2021, 2:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Tag Q3_21_rating was removed from gene: GTF2E2.
Source Expert Review Green was added to GTF2E2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
gene: GTF2E2 was added gene: GTF2E2 was added to Severe microcephaly. Sources: Literature Q3_21_rating tags were added to gene: GTF2E2. Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949; 28973399 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Review for gene: GTF2E2 was set to GREEN