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Severe microcephaly

Gene: GTF2E2

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

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

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 Green
  • Literature
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Clinvar variants
Variants in GTF2E2
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: GTF2E2.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to GTF2E2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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