| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1117 | BLOC1S6 | Zornitza Stark Marked gene: BLOC1S6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1117 | BLOC1S6 | Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1117 | BLOC1S6 | Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from HERMANSKY-PUDLAK SYNDROME 9 to Hermansky-Pudlak syndrome 9, MIM# 614171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1116 | BLOC1S6 | Zornitza Stark Publications for gene: BLOC1S6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1115 | BLOC1S6 | Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1115 | BLOC1S6 | Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1114 | BLOC1S6 |
Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only. Presentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only. Presentation of HPS in general is post-natal. |
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| Fetal anomalies v0.1114 | BLOC1S6 | Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BLOC1S6 |
Zornitza Stark gene: BLOC1S6 was added gene: BLOC1S6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 |
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