Primary lymphoedema

Gene: RASA1

Green List (high evidence)

RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 10 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, 1:56 p.m. | Last Modified: 4 Sep 2019, 1:56 p.m.
Panel Version: 1.114

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [PMIDs 26969842, 23650393, 22342634], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [PMID 23650393]. Whether these lymphatic abnormalities are progressive is not yet known."
Created: 23 Aug 2019, 5:19 p.m. | Last Modified: 23 Aug 2019, 5:23 p.m.
Panel Version: 1.108
Associated with Capillary malformation-arteriovenous malformation 1 608354.
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Capillary malformation-arteriovenous malformation 1 608354

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Capillary malformation-arteriovenous malformation 1 608354
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rasa1 has been classified as Green List (High Evidence).

23 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rasa1 has been classified as Amber List (Moderate Evidence).

23 Aug 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RASA1 were set to

23 Aug 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1 608354

23 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: RASA1 was added gene: RASA1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown