TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures
0.400 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO
Squamous cell carcinoma of the head and neck
0.300 GeneticVariation disease UNIPROT
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.300 GeneticVariation disease UNIPROT
CUI: C0014544
Disease: Epilepsy
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
CUI: C0085584
Disease: Encephalopathies
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
CUI: C0557874
Disease: Global developmental delay
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.110 GeneticVariation disease CLINVAR
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.110 Biomarker group HPO