1. Panels
  2. Congenital ophthalmoplegia
  3. ECEL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital ophthalmoplegia

Gene: ECEL1

Amber List (moderate evidence)
ECEL1 (endothelin converting enzyme like 1)
EnsemblGeneIds (GRCh38): ENSG00000171551
EnsemblGeneIds (GRCh37): ENSG00000171551
OMIM: 605896, Gene2Phenotype
ECEL1 is in 6 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

I don't know

25173900 described an ocular phenotype consistent with congenital cranial dysinnervation disorder (CCDD) in 3 of 4 siblings with ECEL-1 related distal arthrogryposis. The fourth affected sibling (with the mildest arthrogryposis in the family) had no ocular phenotype. Of 26 other reported recessive ECEL1 mutation cases (14 families), all had arthrogryposis, 19 had documented ptosis, and 4 had documented complex strabismus. One of these cases had both documented ptosis and complex strabismus.
Sources: Literature
Created: 2 Nov 2020, 12:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D - 615065; Congenital cranial dysinnervation disorder

Publications

Created: 2 Nov 2020, 12:13 p.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Arthrogryposis, distal, type 5D - 615065
  • Congenital cranial dysinnervation disorder
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ecel1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ecel1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: ECEL1 was added gene: ECEL1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECEL1 were set to PMID: 25173900 Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D - 615065; Congenital cranial dysinnervation disorder Review for gene: ECEL1 was set to AMBER