Gene: TSC2

Alternate names for this Gene: LAM|PPP1R160|TSC4

Gene Summary: Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: TSC complex subunit 2

Type of Gene: protein-coding

Gene: PKD1

Alternate names for this Gene: PBP|PC1|Pc-1|TRPP1

Gene Summary: This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: polycystin 1, transient receptor potential channel interacting

Type of Gene: protein-coding

rs137854218 in TSC2;PKD1 gene and Neoplastic Syndromes, Hereditary PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

rs137854218 in TSC2;PKD1 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 15874888 2005 Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PMID 25498131 2014 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16114042 2005 Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 9328481 1997 Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

PMID 12136241 2002 SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

PMID 25782670 2015 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

PMID 24789117 2015 Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

PMID 12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PMID 10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PMID 10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PMID 10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PMID 9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

rs45507199 in TSC2;PKD1 gene and Tuberous Sclerosis PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 16114042 2005 Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.

PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 27406250 2016 Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.