Congenital muscular dystrophy and congenital myopathy

Gene: ECEL1

I don't know

As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and GMS Neurology specialist test group and summarised by Louise Daugherty (Genomics England Curator), this gene should remain with Green rating in this panel.

Created: 26 Dec 2023, 4:05 p.m. | Last Modified: 26 Dec 2023, 4:05 p.m.

Panel Version: 0.218

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

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D 615065

Publications

• 23261301

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

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

• 30131190

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

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