Disease #00188 (TSC1 (tuberous sclerosis, type 1), OMIM:191100)

Official abbreviation TSC1
Name tuberous sclerosis, type 1
OMIM ID 191100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 11
Phenotype entries for this disease 7
Associated with 1 gene TSC1
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00229559 - - - - - - - - - - - TSC1 - TSC1 TSC1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00263428 08 PubMed: He 2020 - F - China - - - - - TSC1 - - TSC1 1 1 Lang He
00263429 09 PubMed: He 2020 - F - China - - - - - TSC1 - - TSC1 1 1 Lang He
00263432 12 PubMed: He 2020 - F - (China) - - - - - TSC1 - - TSC1 1 1 Lang He
00306735 - - - - - - - - - - - TSC1 - TSC1 TSC1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00324564 P4 - - M - Poland - - - - - TSC1 - TSC1, TSC2 TSC1 1 1 Katarzyna Bąbol-Pokora
00324565 P8 - - M - Poland - - - - - TSC1 - TSC1, TSC2 TSC1 1 1 Katarzyna Bąbol-Pokora
00324566 P11 - - M - Poland - - - - - TSC1 - TSC1, TSC2 TSC1 1 1 Katarzyna Bąbol-Pokora
00328830 - - - - - - - - - - - TSC1 - TSC1 TSC1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00384621 186104 - - M - Germany - - - - - TSC1 - TSC1 TSC1 1 1 Andreas Laner
00407773 196656 - Both parents were tested in the trio-exome analysis and they are negative for the variant; the parents do not show any signs of a TSC1-related disease M no Germany - - - - - TSC1 Seizure, Focal-onset seizure, Abnormal nervous system physiology, Cerebral hemorrhage, Intracranial hemorrhage TSC1 TSC1 1 1 Andreas Laner
Legend   How to query