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Severe microcephaly

Gene: GTF2E2

Amber List (moderate evidence)

GTF2E2 (general transcription factor IIE subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000197265
EnsemblGeneIds (GRCh37): ENSG00000197265
OMIM: 189964, Gene2Phenotype
GTF2E2 is in 7 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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.
Sources: Literature
Created: 30 Sep 2021, 2:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Trichothiodystrophy 6, nonphotosensitive, OMIM:616943



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Clinvar variants
Variants in GTF2E2
Panels with this gene

History Filter Activity

30 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).

30 Sep 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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