MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
|
28645799 |
2017 |
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
|
28645799 |
2017 |
Transposition of the Great Arteries, Dextro-Looped 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo genic mutations among a Chinese autism spectrum disorder cohort.
|
27824329 |
2016 |
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
|
25712080 |
2015 |
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
|
25712080 |
2015 |
Transposition of the Great Arteries, Dextro-Looped 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
|
23403903 |
2013 |
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
|
23403903 |
2013 |
Transposition of the Great Arteries, Dextro-Looped 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
|
14638541 |
2003 |
Transposition of the Great Arteries, Dextro-Looped 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Transposition of the Great Arteries, Dextro-Looped 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing.
|
29959045 |
2019 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Disruption of MED13L, encoding a component of the Mediator complex, is increasingly recognized as the cause of an intellectual disability syndrome with associated facial dysmorphism.
|
29159987 |
2018 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
|
29511999 |
2018 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Polymorphisms in the MED13L gene have been linked to congenital heart anomalies and intellectual disabilities.
|
29951696 |
2018 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features.
|
28371282 |
2017 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Review of the reported patients with MED13L haploinsufficiency indicates moderate to severe ID and facial anomalies in all patients, as well as severe speech delay and muscular hypotonia in the majority.
|
28645799 |
2017 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies.
|
27500536 |
2016 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
In the ID-linked region at 12q24.22-12q24.31 19 out of 21 ID cases carried segmental CNV and 20 of 21 them displayed ROH segments with mean size lengths for ID cases 2512 kb (500-6,472 kb) and for healthy control 682 kb (531-986 kb), including the genes MED13L, HRK, FBXW8, TESC, CDK2AP1 and SBNO1.
|
25626716 |
2015 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability.
|
25712080 |
2015 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability.
|
24781760 |
2015 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID).
|
25758992 |
2015 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family.
|
23403903 |
2013 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family.
|
23403903 |
2013 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family.
|
23403903 |
2013 |