Cerebral Palsy
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, 2:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2, MIM#613254
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Tuberous sclerosis-2, MIM#613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Lymphoedema_syndromic
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Pneumothorax
- Facial papules
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Renal Macrocystic Disease
- Mosaic skin disorders
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsc2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsc2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: TSC2 was added gene: TSC2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC2 were set to PMID: 38693247 Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM#613254 Review for gene: TSC2 was set to RED