Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is an autosomal-dominant condition caused by activating missense mutations in HRAS.
|
31680412 |
2020 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fetal costello syndrome: a description of the phenotype of HRAS exon 1 mutations.
|
30937994 |
2020 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. rs104894230" genes_norm="3265">G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004).
|
30885829 |
2019 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS.
|
31222966 |
2019 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome.
|
29254681 |
2018 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a gain of function Rasopathy caused by heterozygous activating mutations in the HRAS gene.
|
28856719 |
2017 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
|
28027064 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases.
|
28371260 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
|
28455154 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings.
|
28337834 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
|
28139825 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare RASopathy caused by activating mutations in the HRAS gene.
|
28455524 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants).
|
28594414 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
|
28328122 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome.
|
26888048 |
2016 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
|
27589201 |
2016 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy.
|
27589201 |
2016 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.
|
27705751 |
2016 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline.Hypoglycemia is common in CS neonates.
|
26572961 |
2016 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, our results also demonstrate that the phenotype in CS and somatic cancers is not only determined by the different transforming potentials of mutant HRAS proteins, but also by the efficiency of exon 2 inclusion resulting from the different HRAS mutations.
|
27195699 |
2016 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
|
27195699 |
2016 |