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 and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 5D, MIM# 615065

    Green ECEL1 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 5D, MIM# 615065

    Green ECEL1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, distal, type 5D, 615065 (3)

    Amber ECEL1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis, distal, type 5D - 615065
    • Congenital cranial dysinnervation disorder

    Green ECEL1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 5D, MIM# 615065

    Green ECEL1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, distal, type 5D, 615065 (3)