Cerebral vascular malformations

Gene: ELN

Red List (low evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panel
Created: 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)

I don't know

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

History Filter Activity

29 Nov 2019, Gel status: 1

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)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ELN.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ELN.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Dec 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ELN were set to 8460548

14 Dec 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ELN were set to Moyamoya disease;Aneurysm, intracranial berry, 1 105800

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ELN was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELN was created by ellenmcdonagh