Cerebral vascular malformations
Gene: ANIB13 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 15 Aug 2017, 1:55 p.m.
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 2:43 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: No definite association with Berry aneurysms although familial aneurysms map to this locusCreated: 12 Dec 2016, 2:27 p.m.
No definite association with Berry aneurysms although familial aneurysms map to this locusCreated: 12 Dec 2016, 2:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aneurysm, intracranial berry, 1 105800
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
-
- Aneurysm, intracranial berry, 1
- Tags
- OMIM
- 105800
- Clinvar variants
- Variants in ANIB1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ANIB1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: ANIB1.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ANIB1 was added to Cerebrovascular disorderspanel. Sources: Other
Created
Ellen McDonagh (Genomics England Curator)ANIB1 was created by ellenmcdonagh