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Intellectual disability

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Two distinct homozygous variants identified in 5 individuals from 4 families who all presented with DD/ID among other features. Despite indication that one of these represents a founder variant, discovery of a distinct homozygous variant in a patient with an overlapping phenotype corroborates pertinence of GTF2E2. Furthermore, there are some supportive in vitro studies that demonstrate functional impairment.

Overall this is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 30 Sep 2021, 2:03 p.m. | Last Modified: 30 Sep 2021, 2:04 p.m.
Panel Version: 3.1318
Theil et al., 2017 (PMID: 28973399) reported on three individuals from two additional Moroccan families with the same variant as that identified in the patient from PMID: 26996949 with moderate ID, as previously reviewed by Catherine Snow. All were developmentally delayed and the two older patients has mild ID.
Created: 30 Sep 2021, 1:53 p.m. | Last Modified: 30 Sep 2021, 1:53 p.m.
Panel Version: 3.1317

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943

Publications

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes. PMID:26996949 describes 2 affected members from 2 unrelated families.

One individual from a consanguineous family had marked cognitive delays including a speech articulation disorder with features of attention deficit disorder, he had not had formal IQ testing. The other individual had moderate ID (IQ40).

Predominant phenotype of GTF2E2 is Trichothiodystrophy however as both individuals appear to have ID adding GTF2E2 to ID panel as Amber and adding to watchlist for further evidence.
Created: 21 May 2019, 12:58 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Tags
Q3_21_rating
OMIM
189964
Clinvar variants
Variants in GTF2E2
Penetrance
None
Publications
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: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: GTF2E2. Tag Q3_21_rating tag was added to gene: GTF2E2.

30 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GTF2E2 were set to 30914295; 26996949

30 Sep 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: GTF2E2.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene GTF2E2 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: GTF2E2 was added gene: GTF2E2 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to Publications for gene: GTF2E2 were set to 30914295; 26996949 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943