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  3. RUNX1T1
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Intellectual disability

Gene: RUNX1T1

Amber List (moderate evidence)
RUNX1T1 (RUNX1 translocation partner 1)
EnsemblGeneIds (GRCh38): ENSG00000079102
EnsemblGeneIds (GRCh37): ENSG00000079102
OMIM: 133435, Gene2Phenotype
RUNX1T1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on publications: PMID:39568205 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 4 Feb 2025, 5:31 p.m. | Last Modified: 4 Feb 2025, 5:31 p.m.
Panel Version: 8.75
PMID:22644616 reported a patient with mild intellectual disability and de novo deletion within the RUNX1T1 gene.

PMID:39568205 reported three unrelated individuals with neurodevelopmental and congenital anomalies and with de novo variants in RUNX1T1 gene. Although delayed speech and language development and delayed fine motor development was reported in all three cases, global developmental delay was only reported in two of them.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.

Hence, this gene should be rated amber with current evidence.
Sources: Literature
Created: 4 Feb 2025, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 4 Feb 2025, 5:27 p.m.

Panel version: 8.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
OMIM
133435
Clinvar variants
Variants in RUNX1T1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: RUNX1T1 were set to 22644616; 39568205

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: runx1t1 has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RUNX1T1 was added gene: RUNX1T1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RUNX1T1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RUNX1T1 were set to 22644616; 39568205 Phenotypes for gene: RUNX1T1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: RUNX1T1 was set to AMBER