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  3. ECE1
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Gastrointestinal neuromuscular disease

Gene: ECE1

Red List (low evidence)
ECE1 (endothelin converting enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000117298
EnsemblGeneIds (GRCh37): ENSG00000117298
OMIM: 600423, Gene2Phenotype
ECE1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case reported with Arg742Cys. Although this variant causes a loss of function in in vitro assays the NFE AF is higher than expected for a dominant disorder (0.0004, 50/127,302 alleles).
Sources: Expert list
Created: 3 Jul 2020, 4:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870

Publications

Created: 3 Jul 2020, 4:26 a.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870
OMIM
600423
Clinvar variants
Variants in ECE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ece1 has been classified as Red List (Low Evidence).

3 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ECE1 was added gene: ECE1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ECE1 were set to 9915973 Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870 Review for gene: ECE1 was set to RED