rs869320711
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.800
GeneticVariation
UNIPROT
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
25558065
2015
rs869320711
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.800
GeneticVariation
UNIPROT
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
27040692
2016
rs869320711
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.800
GeneticVariation
UNIPROT
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
27040691
2016
rs575822089
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Floppy infant syndrome
0.010
GeneticVariation
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
rs575822089
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Epilepsy
0.010
GeneticVariation
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
rs1057518332
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
A
0.700
CausalMutation
CLINVAR
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
27040691
2016
rs1057518332
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
A
0.700
CausalMutation
CLINVAR
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
27040692
2016
rs1057518332
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
A
0.700
CausalMutation
CLINVAR
TBCK influences cell proliferation, cell size and mTOR signaling pathway.
23977024
2013
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Decreased tendon reflex
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Abnormal delivery
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Feeding difficulties in infancy
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Neonatal respiratory distress
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Bifid uvula
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Generalized muscle weakness
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Acid reflux
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Complete breech presentation
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Cutis marmorata
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Stridor
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Torticollis
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Absent speech
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Primary Caesarian section
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Premature Birth
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Dilated ventricles (finding)
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
A
0.700
CausalMutation
CLINVAR
rs1560755661
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
Esotropia
A
0.700
CausalMutation
CLINVAR