Cerebral vascular malformations
Gene: ELN
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
Comment on list classification: Multiple arterial aneurysms reported in families with ELN mutations.Created: 19 Dec 2016, 3:03 p.m.
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
Source Expert Review Red was added to ELN. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to ELN.
Source NHS GMS was added to ELN.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for ELN were set to 8460548
Phenotypes for ELN were set to Moyamoya disease;Aneurysm, intracranial berry, 1 105800
ELN was added to Cerebrovascular disorderspanel. Sources: Expert list
ELN was created by ellenmcdonagh