| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital ophthalmoplegia v0.13 | HOXA1 | Zornitza Stark Marked gene: HOXA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.13 | HOXA1 | Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.13 | HOXA1 | Zornitza Stark Classified gene: HOXA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.13 | HOXA1 | Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.8 | HOXA1 |
Shannon LeBlanc gene: HOXA1 was added gene: HOXA1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA1 were set to 17875913; 20227628; 18412118 Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome - 601536 Review for gene: HOXA1 was set to GREEN Added comment: The HOXA1-related syndrome phenotype is variable. The most common features in affected individuals are limited horizontal gaze (diagnosed as Duane syndrome in BSAS and horizontal gaze palsy in ABDS patients) and sensorineural deafness; facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects also occur (PMID 20227628) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||