Congenital myopathy

Gene: ECEL1

Green List (high evidence)

ECEL1 (endothelin converting enzyme like 1)
EnsemblGeneIds (GRCh38): ENSG00000171551
EnsemblGeneIds (GRCh37): ENSG00000171551
OMIM: 605896, Gene2Phenotype
ECEL1 is in 7 panels

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I agree with the original assessment that this is predominantly an arthrogryposis condition, the evidence for a primary muscle phenotype driving the arthrogryposis is not strong.
Created: 11 Jun 2020, 8:41 a.m. | Last Modified: 11 Jun 2020, 8:41 a.m.
Panel Version: 2.5

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Created: 18 Oct 2019, 1:10 p.m. | Last Modified: 18 Oct 2019, 1:18 p.m.
Panel Version: 1.191
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D 615065

Publications

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

note that we have now identified at least 6 urelated families with ECEL1 gene mutations. patients present a variable degree of contractural phenotype, some with more severe Arhtrogryposis but still in keeping with a diagnosis of congenital myopathy. thus we would strongly recommend for this gene to be considered in the Cong Myopathy panel.
Created: 30 May 2019, 4:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D 615065

Publications

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

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: In view of expert opinion as green, further opinion sought. Arianna Tucci, Genomics England curator agrees that the phenotype is of arthrogryposis and therefore best placed on that panel. Expert contacted to ask if they have evidence of myopathy without arthrogryposis in this gene as this would require green status on this panel.
Created: 7 Mar 2017, 2:41 p.m.
Comment when marking as ready: Arthrogryposis rather than primarily muscle weakness
Created: 3 Feb 2017, 11:55 a.m.
More appropriate for arthrogryposis gene panel. Assigned green there already.
Created: 30 Jan 2017, 3:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D 615065

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ecel1 has been classified as Green List (High Evidence).

16 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ECEL1 were set to 23261301

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D, 615065

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065

3 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ECEL1 were set to 22396310

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ECEL1 were set to

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ECEL1.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to ECEL1.

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 0

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for ECEL1 were set to Arthrogryposis, distal, type 5D 615065

3 Feb 2017, Gel status: 0

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for ECEL1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ECEL1 was added to Congenital myopathypanel. Sources: Expert