DEAF1

Chr 11ARAD

DEAF1 transcription factor

Also known as: MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5

NCBI Gene: 10522 ENSG00000177030 UniProt: O75398 OMIM: 602635

The protein functions as a transcriptional regulator with a zinc finger domain that binds to its own promoter and target gene promoters to control embryonic development. Mutations cause neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, as well as Vulto-van Silfout-de Vries syndrome, following both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves disrupted transcriptional regulation during critical developmental periods.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizuresMIM #617171

Vulto-van Silfout-de Vries syndromeMIM #615828

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.70

LOEUF

Multiple*

Mechanism· G2P