Genomics England
GMS Panels
Panels
Genes and Entities

ECEL1

endothelin converting enzyme like 1
OMIM: 605896
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 5D, 615065
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 5D, OMIM:615065
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 5D 615065
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 5D