| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v0.2 | ALMS1 | Zornitza Stark Marked gene: ALMS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.2 | ALMS1 | Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.2 | ALMS1 | Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800 |
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