Cerebral vascular malformations

Gene: MRVI1

Amber List (moderate evidence)

MRVI1 (murine retrovirus integration site 1 homolog)
EnsemblGeneIds (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 IRAG1
Created: 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)

I don't know

New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 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 malformations
Created: 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 list
Created: 29 Nov 2019, 3:39 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
Unknown
Sources
Tags
new-gene-name
OMIM
604673
Clinvar variants
Variants in MRVI1
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: MRVI1.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MRVI1.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MRVI1.

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mrvi1 has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 1

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