|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
|
31825161 |
2020 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cohen syndrome is caused by mutations, such as single nucleotide variants (SNVs) and small insertions/deletions, and copy number variations (CNVs) in vacuolar protein sorting 13 homolog B (VPS13B).
|
30602132 |
2020 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The current study broadens the mutation spectrum of VPS13B gene and demonstrates different phenotypic features from classic Cohen syndrome.
|
31444703 |
2020 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
WES revealed a homozygous nonsense mutation (c.5492dup, p.Asn1831Lysfs*8) in VPS13B that is known to cause Cohen syndrome.
|
30925032 |
2019 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>VPS13B</i> gene are associated with Cohen syndrome and other cognitive disorders such as intellectual disabilities and autism spectrum disorder (ASD).
|
31495077 |
2019 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene.
|
30144585 |
2019 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene.
|
30843084 |
2019 |
|
Cohen syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
VPS13B is the only gene responsible for CS.
|
31752730 |
2019 |
|
Cohen syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Disruption of VPS13B causes Cohen syndrome, which presents intermittent neutropenia with a left-shifted granulopoiesis in the bone marrow.
|
29264741 |
2018 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.
|
30473963 |
2018 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome.
|
29634382 |
2018 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in VPS13B, also known as COH1.
|
28631888 |
2017 |
|
Cohen syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants.
|
29149870 |
2017 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
VPS13B mutation causes Cohen syndrome (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia).
|
27832746 |
2016 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
|
26395554 |
2016 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
|
27533158 |
2016 |
|
Cohen syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
Cohen syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
|
Cohen syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel homozygous deletion leading to a frameshift mutation in VPS13B, c.11327del, p.(Asn3776Thrfs*102), the disease gene associated with Cohen syndrome.
|
25060287 |
2015 |
|
Cohen syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
To understand the mechanisms involved in CS fat storage, we used two models of adipogenesis differentiation: (i) SGBS pre-adipocytes with VPS13B invalidation thanks to siRNA delivery and (ii) CS primary fibroblasts.
|
26358774 |
2015 |
|
Cohen syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
|
26104215 |
2015 |
|
Cohen syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |