| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1904 | HBS1L | Bryony Thompson Marked gene: HBS1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1904 | HBS1L | Bryony Thompson Gene: hbs1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1904 | HBS1L | Bryony Thompson Classified gene: HBS1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1904 | HBS1L | Bryony Thompson Gene: hbs1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1903 | HBS1L |
Bryony Thompson gene: HBS1L was added gene: HBS1L was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HBS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBS1L were set to 38966981; 24288412; 30707697 Phenotypes for gene: HBS1L were set to Retinal disorder MONDO:0005283 Review for gene: HBS1L was set to AMBER Added comment: A single case with biallelic variants reported with retinal dystrophy, poor growth and neurodevelopmental delay (originally reported in 2013). A hypomorph mouse model demonstrated defective development of photoreceptor cells. Sources: Literature |
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