Fetal anomalies
Gene: GTF2E2

GTF2E2 (general transcription factor IIE subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000197265
EnsemblGeneIds (GRCh37): ENSG00000197265
OMIM: 189964, Gene2Phenotype
GTF2E2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Microcephaly reported but onset uncertain. Craniosynostosis in one individual.
Created: 10 Feb 2022, 3:38 a.m. | Last Modified: 10 Feb 2022, 3:38 a.m.

Panel Version: 0.3250

Created: 12 Dec 2019, 6:23 a.m.
Last Modified: 12 Dec 2019, 6:23 a.m.
Panel version: 0.3250

Chirag Patel (Genetic Health Queensland)

I don't know

2 unrelated non-photosensitive TTD families (3 affected) with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Created: 11 Dec 2019, 11:38 p.m. | Last Modified: 11 Dec 2019, 11:40 p.m.

Panel Version: 0.1349

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 6, nonphotosensitive; OMIM #616943

Publications

PMID: 28973399

Created: 11 Dec 2019, 11:38 p.m.
Last Modified: 11 Dec 2019, 11:40 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1348

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp
Literature

Phenotypes

Trichothiodystrophy 6, nonphotosensitive, MIM #616943

OMIM

189964

Clinvar variants

Variants in GTF2E2

Penetrance

None

Publications

28973399

Panels with this gene