Fetal anomalies
Gene: DEAF1

DEAF1 (DEAF1, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000177030
EnsemblGeneIds (GRCh37): ENSG00000177030
OMIM: 602635, Gene2Phenotype
DEAF1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only.

LOF and Dominant-negative
- De novo missense in the SAND domain tend to have a dominant-negative effect
- Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency)
- Heterozygous deletions have no phenotype.

Brain abnormalities on imaging, particularly with AD disorder.
Created: 16 Jul 2020, 8:09 a.m. | Last Modified: 17 Feb 2022, 6:59 a.m.

Panel Version: 0.3613

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828

Publications

Created: 16 Jul 2020, 8:09 a.m.
Last Modified: 17 Feb 2022, 6:59 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2771

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171
Vulto-van Silfout-de Vries syndrome 615828

OMIM

602635

Clinvar variants

Variants in DEAF1

Penetrance

None

Publications

Panels with this gene