Gene: DEAF1

Alternate names for this Gene: MRD24|NEDHELS|NUDR|SPN|VSVS|ZMYND5

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: DEAF1 transcription factor

Type of Gene: protein-coding

rs1057524157 in DEAF1 gene and 2-3 toe syndactyly PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1554944271 in DEAF1 gene and Abnormality of the cerebellum PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057519565 in DEAF1 gene and Absent speech PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057519565 in DEAF1 gene and Acid reflux PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Aggressive behavior PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1564950387 in DEAF1 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs1057519565 in DEAF1 gene and Autistic behavior PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Central hypotonia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Cerebellar Ataxia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944271 in DEAF1 gene and Congenital Dysplasia Of The Hip PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944271 in DEAF1 gene and Constipation PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs587777623 in DEAF1 gene and DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

rs1057519565 in DEAF1 gene and Developmental regression PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1554944527 in DEAF1 gene and Dysmorphic features PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

rs1554944271 in DEAF1 gene and EEG with central focal spikes PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057524157 in DEAF1 gene and Feeding difficulties in infancy PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Flatfoot PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057524157 in DEAF1 gene and Generalized hypotonia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1057524157 in DEAF1 gene and Global developmental delay PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

rs1057519565 in DEAF1 gene and Large hand PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944271 in DEAF1 gene and Low frequency deafness PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057519565 in DEAF1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 11690625 2001 Ion channel variation causes epilepsies.

rs587777623 in DEAF1 gene and Microcephaly (physical finding) PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

rs1554944271 in DEAF1 gene and Mild intrauterine growth retardation PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944527 in DEAF1 gene and Muscle hypotonia PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

rs1057524157 in DEAF1 gene and Normal interictal EEG PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944527 in DEAF1 gene and Overgrowth PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Overriding toe PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Pica Disease PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057519565 in DEAF1 gene and Poor school performance PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554944271 in DEAF1 gene and Postauricular skin tag PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057524157 in DEAF1 gene and Recurrent otitis media PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057519565 in DEAF1 gene and Relative macrocephaly PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057524157 in DEAF1 gene and Repetitive compulsive behavior PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057519565 in DEAF1 gene and Seizures PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Self-Injurious Behavior PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Sleep disturbances PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1057524157 in DEAF1 gene and Tremor PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.