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Paediatric pseudo-obstruction syndrome

Gene: ECE1

Amber List (moderate evidence)
ECE1 (endothelin converting enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000117298
EnsemblGeneIds (GRCh37): ENSG00000117298
OMIM: 600423, Gene2Phenotype
ECE1 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Only a single human patient discovered to date - Hofstra et al. (1999, PMID:9915973) identified heterozygosity an R742C mutation in the ECE1 gene in a patient with skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction (HCAD, MIM:613870). Given mouse model displays distal intestinal aganglionosis (PMID: 9449665; 17131407) have rated Amber but additional human cases are required to meet diagnostic-grade criteria.
Created: 3 Jan 2023, 2:39 p.m. | Last Modified: 3 Jan 2023, 2:39 p.m.
Panel Version: 0.185
Created: 3 Jan 2023, 2:39 p.m.
Last Modified: 3 Jan 2023, 2:39 p.m.
Panel version: 0.185

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Short segment megacolon, craniofacial defects

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870
OMIM
600423
Clinvar variants
Variants in ECE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ECE1 were set to

3 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ece1 has been classified as Amber List (Moderate Evidence).

3 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ECE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ECE1 were changed from to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ECE1 was added gene: ECE1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ECE1 was set to