1. Panels
  2. Intellectual disability
  3. GTF2I
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: GTF2I

Amber List (moderate evidence)
GTF2I (general transcription factor IIi)
EnsemblGeneIds (GRCh38): ENSG00000263001
EnsemblGeneIds (GRCh37): ENSG00000077809
OMIM: 601679, Gene2Phenotype
GTF2I is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Although five of seven patients presented with mild global developmental delay/ intellectual disability (moderate and severe in one each), they all displayed syndromic phenotype including dysmorphic features. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 5 Jan 2026, 7:20 p.m. | Last Modified: 5 Jan 2026, 7:20 p.m.
Panel Version: 9.221
PMID:40962490 (2025) reported the identification of heterozygous de novo variants in GTF2I gene (two non-sense, two splice-site, one missense, one indel and one intragenic deletion) via whole genome/ exome sequencing in seven unrelated individuals with a neurodevelopmental disorder. They all presented with global developmental delay/ intellectual disability and facial dysmorphic features, with speech delay and/or autistic features in six of them. GDD was severe and moderate in one each, and was mild in the rest. The effect of the two splice-site variants was confirmed by RNA sequencing.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 05 January 2026), Gene2Phenotype or ClinGen.
Sources: Literature
Created: 5 Jan 2026, 7:16 p.m. | Last Modified: 6 Jan 2026, 5:38 p.m.
Panel Version: 9.224

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 5 Jan 2026, 7:16 p.m.
Last Modified: 6 Jan 2026, 5:38 p.m.
Panel version: 9.221

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
601679
Clinvar variants
Variants in GTF2I
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2026, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: GTF2I was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gtf2i has been classified as Amber List (Moderate Evidence).

5 Jan 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: GTF2I.

5 Jan 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GTF2I was added gene: GTF2I was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GTF2I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GTF2I were set to 40962490 Phenotypes for gene: GTF2I were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: GTF2I was set to GREEN