Primary lymphoedema
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).Created: 4 Sep 2019, 1:57 p.m. | Last Modified: 4 Sep 2019, 1:57 p.m.
Panel Version: 1.117
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.Created: 23 Aug 2019, 5:47 p.m. | Last Modified: 23 Aug 2019, 5:47 p.m.
Panel Version: 1.112
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Focal cortical dysplasia, type II, somatic 607341
- Lymphangioleiomyomatosis 606690
- Tuberous sclerosis-1 191100
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TSC1 were changed from to Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tsc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: TSC1 was added gene: TSC1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown