ECEL1

endothelin converting enzyme like 1
OMIM: 605896, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ECEL1 in Arthrogryposis


Level 2: Neurology
Version 10.7
Latest signed off version: v10.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
Green ECEL1 in Congenital myopathy


Level 2: Neurology
Version 7.44
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert
    Phenotypes
    • Arthrogryposis, distal, type 5D, OMIM:615065
    Green ECEL1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE 5D
    Green ECEL1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE 5D 615065
    Amber ECEL1 in Clefting


    Level 2: Musculoskeletal
    Version 7.5
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis, distal, type 5D, OMIM:615065
    Red ECEL1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Arthrogryposis, distal, type 5D, 615065