Cerebral vascular malformations
Gene: ELNEnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 12 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panelCreated: 29 Nov 2019, 7:07 p.m. | Last Modified: 29 Nov 2019, 7:07 p.m.
Panel Version: 1.67
Ellen Thomas (Genomics England Curator)
Comment on list classification: Multiple arterial aneurysms reported in families with ELN mutations.Created: 19 Dec 2016, 3:03 p.m.
Alice Gardham (Genomics England)
SNP study associates Berry aneurysms with ELN gene. One report of Moya Moya in patient with an ELN mutation. Moya Moya previously reported in two patients with Williams syndrome.Created: 12 Dec 2016, 3:05 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, NOT imprinted
- Sources
-
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Expert list
- Phenotypes
-
- Moyamoya disease
- Aneurysm, intracranial berry, 1 105800
- OMIM
- 130160
- Clinvar variants
- Variants in ELN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Pneumothorax - familial
- Intellectual disability
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Elastin-related phenotypes
- DDG2P
- Fetal anomalies
- Familial pulmonary fibrosis
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Cerebral vascular malformations
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to ELN. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ELN.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ELN.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ELN were set to 8460548
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ELN were set to Moyamoya disease;Aneurysm, intracranial berry, 1 105800
Added New Source
Ellen McDonagh (Genomics England Curator)ELN was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ELN was created by ellenmcdonagh