| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital nystagmus v0.49 | HPS1 | Zornitza Stark Marked gene: HPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.49 | HPS1 | Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.49 | HPS1 | Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.48 | HPS1 |
Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association. Nystagmus is a feature. |
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| Congenital nystagmus v0.4 | HPS1 | Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 1 for gene: HPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033 Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1 |
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