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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 5 panels

1 review

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, 616943
Tags
watchlist
OMIM
189964
Clinvar variants
Variants in GTF2E2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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