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DEAF1

Synonyms
MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
0
VUS
25,074
Likely benign
5,307
Benign
1,625

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on DEAF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
27.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the nervous system
27.3%
Abnormality of the eye
22.7%
Abnormality of the musculoskeletal system
22.7%
Abnormality of prenatal development or birth
13.6%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of limbs
9.1%
Abnormality of the ear
9.1%
Abnormality of the genitourinary system
9.1%
Growth abnormality
9.1%
Abnormality of the breast
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the integument
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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