1. Panels
  2. Neuromuscular arthrogryposis
  3. ECEL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Neuromuscular arthrogryposis

Gene: ECEL1

Green List (high evidence)
ECEL1 (endothelin converting enzyme like 1)
EnsemblGeneIds (GRCh38): ENSG00000171551
EnsemblGeneIds (GRCh37): ENSG00000171551
OMIM: 605896, Gene2Phenotype
ECEL1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Created: 16 May 2019, 9:33 p.m.

Panel version: 0.16

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D, 615065

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

Created: 16 May 2019, 9:27 p.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ECEL1.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ECEL1. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: ECEL1 was added gene: ECEL1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065