HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
TBCK-related intellectual disability syndrome: Case study of two patients.
|
27748029 |
2017 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of TBCK causes a rare recessive developmental disorder.
|
27275012 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
|
25558065 |
2015 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TBCK influences cell proliferation, cell size and mTOR signaling pathway.
|
23977024 |
2013 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
|
18541960 |
2008 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Seizures
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
Seizures
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Squamous cell carcinoma of the head and neck
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Adenocarcinoma of large intestine
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Epilepsy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
The neurological phenotype of children with TBCK p.R126X mutations, which we call TBCK-encephaloneuronopathy (TBCKE), include congenital hypotonia, progressive motor neuronopathy, leukoencephalopathy, and epilepsy.
|
29283439 |
2018 |
Encephalopathies
|
0.110 |
Biomarker
|
group |
BEFREE |
Given that mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction.
|
29283439 |
2018 |
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic facies and premature death.
|
30591081 |
2018 |
Epilepsy
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Encephalopathies
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|