Mosaic skin disorders
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 20 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mosaicism well described.Created: 18 Feb 2021, 9:30 a.m. | Last Modified: 18 Feb 2021, 9:30 a.m.
Panel Version: 0.33
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-1, MIM# 191100
Mathew Wallis (Tasmanian Clinical Genetics Service)
Sources: LiteratureCreated: 18 Feb 2021, 6:23 a.m. | Last Modified: 18 Feb 2021, 6:29 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 26540169
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Tuberous sclerosis-1, MIM# 191100
- Tags
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- Publications
-
- PMID: 26540169
- Panels with this gene
-
- Additional findings_Adult
- 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
- Renal Macrocystic Disease
- Mosaic skin disorders
- Cerebral Palsy
- Autism
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: TSC1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsc1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Mathew Wallis (Tasmanian Clinical Genetics Service)gene: TSC1 was added gene: TSC1 was added to Mosaic skin disorders. Sources: Expert Review,Literature Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC1 were set to PMID: 26540169 Review for gene: TSC1 was set to GREEN