DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
|
30923367 |
2019 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
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.
|
26834045 |
2016 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
|
26048982 |
2015 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
|
26048982 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
|
24726472 |
2014 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Ion channel variation causes epilepsies.
|
11690625 |
2001 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Deleterious mutations within the DNA binding domain of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of neurodevelopmental disorders including intellectual disabilities and autism spectrum disorders.
|
31783086 |
2020 |
Intellectual Disability
|
0.470 |
Biomarker
|
group |
BEFREE |
Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently been implicated in a series of intellectual disability-related neurodevelopmental anomalies termed, in this study, as DEAF1-associated neurodevelopmental disorder (DAND).
|
28940898 |
2017 |
Intellectual Disability
|
0.470 |
Biomarker
|
group |
BEFREE |
Retinoic acid is crucial for early development of the central neural system, and DEAF1 is associated with intellectual disability.
|
26743651 |
2016 |
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
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.
|
26834045 |
2016 |
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
A recent report has shown dominant DEAF1 mutations to occur de novo in patients with intellectual disability.
|
26048982 |
2015 |
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
|
24726472 |
2014 |
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Vulto-van Silfhout et al.
|
25091821 |
2014 |
Intellectual Disability
|
0.470 |
Biomarker
|
group |
CTD_human |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |