| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital ophthalmoplegia v0.11 | ECEL1 | Zornitza Stark Marked gene: ECEL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.11 | ECEL1 | Zornitza Stark Gene: ecel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.11 | ECEL1 | Zornitza Stark Classified gene: ECEL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.11 | ECEL1 | Zornitza Stark Gene: ecel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.8 | ECEL1 |
Shannon LeBlanc 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||