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Intellectual disability

Gene: ELN

Amber List (moderate evidence)

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

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype associated with SNVs in this gene.
Created: 2 Feb 2020, 3:54 a.m. | Last Modified: 2 Feb 2020, 3:54 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Supravalvar aortic stenosis

Konstantinos Varvagiannis (Other)

Red List (low evidence)

Intellectual disability is a feature only in 7q11.23 deletions (Williams Syndrome) or duplications (7q11.23 duplication syndrome) encompassing several genes apart from elastin (ELN). [Both ISCA CNVs are already in this panel, rated green].

It does not however appear to be the case for variants (eg. SNVs or deletions) confined to ELN as in Supravalvar aortic stenosis (MIM 185500 - forms not secondary to WS) or Cutis laxa, autosomal dominant (MIM 123700).

This is discussed in PMID: 20301427 (C. Morris) in the "Genotype-Phenotype correlations" section as well as in the references cited eg. PMID: 14556246 (Morris et al.) or in a previous review on the ELN-related phenotypes (PMID: 11701637 - Morris CA and Mervis CB - summary in table 2).

In G2P, ELN is included in the DD panel, associated with supravalvular aortic stenosis or ELN-related cutis laxa (Note: Other forms of cutis laxa eg. due to mutations in ATP6V0A2 present ID).

The gene is included in gene panels for ID offered by some (few) diagnostic laboratories.

As a result, this gene could probably be demoted to red.
Created: 15 Dec 2018, 12:50 p.m.

Publications

Variants in this GENE are reported as part of current diagnostic practice

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:23 a.m.

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

ELN was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

ELN was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene