DDG2P
Gene: DEAF1

DEAF1 (DEAF1, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000177030
EnsemblGeneIds (GRCh37): ENSG00000177030
OMIM: 602635, Gene2Phenotype
DEAF1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related intellectual developmental disorder are definitive, monoallelic_autosomal and dominant negative (PMIDs: 21076407, 24726472). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00255. The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy are strong, biallelic_autosomal and loss of function (PMIDs: 26048982, 26834045). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02423.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 24726472;21076407). The DDG2P confidence category for the disease Autism, intellectual disability, basal ganglia dysfunction and epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 26834045;26048982).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:615828.0; Autism, intellectual disability, basal ganglia dysfunction and epilepsy; OMIM:617171.0; DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828; DEAF1-related intellectual developmental disorder

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:47 p.m.

Multiple MOPs in DD-G2P download: blank, dominant negative. No MOP provided for Autism, intellectual disability, basal ganglia dysfunction and epilepsy. Multiple MOIs in DD-G2P download: monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828. No MOI provided for Autism, intellectual disability, basal ganglia dysfunction and epilepsy. Multiple ratings in DD-G2P download: Rated confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 and rated probable for Autism, intellectual disability, basal ganglia dysfunction and epilepsy.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Autism, intellectual disability, basal ganglia dysfunction and epilepsy
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828

OMIM

602635

Clinvar variants

Variants in DEAF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DEAF1 was changed from Other - please provide details in the comments to None

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: DEAF1.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407

29 Jan 2019, Gel status: 3