Cerebral vascular malformations
Gene: MRVI1EnsemblGeneIds (GRCh38): ENSG00000072952
EnsemblGeneIds (GRCh37): ENSG00000072952
OMIM: 604673, Gene2Phenotype
MRVI1 is in 1 panel
2 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for MRVI1 is IRAG1Created: 7 May 2020, 10:25 a.m. | Last Modified: 7 May 2020, 10:25 a.m.
Panel Version: 2.4
Louise Daugherty (Genomics England Curator)
New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 29 Nov 2019, 3:42 p.m. | Last Modified: 29 Nov 2019, 3:42 p.m.
Panel Version: 1.58
Comment on list classification: New gene rated Amber- this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 29 Nov 2019, 3:39 p.m. | Last Modified: 29 Nov 2019, 3:39 p.m.
Panel Version: 1.58
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): evidence emerging of potential risk factor for Moya-Moya within NF1 patients.
Sources: Expert listCreated: 29 Nov 2019, 3:39 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Amber
- Expert list
- Tags
- OMIM
- 604673
- Clinvar variants
- Variants in MRVI1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: MRVI1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MRVI1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MRVI1.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mrvi1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MRVI1 was added gene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert list Mode of inheritance for gene: MRVI1 was set to Unknown Review for gene: MRVI1 was set to AMBER