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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

julien thevenon (CHU de Dijon)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green expert review, and it is a confirmed DD gene for distal arthrogryposis type 5D. More than 3 unrelated families described in OMIM from different ethic origins, and multiple different variants. Therefore promoted from red to green.
Created: 3 May 2016, 12:50 p.m.
Comment on mode of inheritance: Source: OMIM and literature.
Created: 3 May 2016, 12:49 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ECEL1 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ECEL1 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ECEL1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen