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Mackenzie's Mission_Reproductive Carrier Screening

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065 (3)
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ECEL1 was added gene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3)