Macrocephaly_Megalencephaly
Gene: RASA2
RASA2 (RAS p21 protein activator 2)
EnsemblGeneIds (GRCh38): ENSG00000155903
EnsemblGeneIds (GRCh37): ENSG00000155903
OMIM: 601589, Gene2Phenotype
RASA2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000155903
EnsemblGeneIds (GRCh37): ENSG00000155903
OMIM: 601589, Gene2Phenotype
RASA2 is in 5 panels
1 review
Sebastian Lunke (Victorian Clinical Genetics Services)
One previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene. None were described to have macrocephaly.
A more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since. No potential disease association other than Noonans was identified.Created: 2 Feb 2020, 11:36 p.m. | Last Modified: 2 Feb 2020, 11:36 p.m.
Panel Version: 0.12
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 601589
- Clinvar variants
- Variants in RASA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Sebastian Lunke (Victorian Clinical Genetics Services)Gene: rasa2 has been classified as Red List (Low Evidence).
2 Feb 2020, Gel status: 1
Set publications
Sebastian Lunke (Victorian Clinical Genetics Services)Publications for gene: RASA2 were set to
2 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Sebastian Lunke (Victorian Clinical Genetics Services)Gene: rasa2 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RASA2 was added gene: RASA2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RASA2 was set to Unknown