| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ductal plate malformation v1.9 | STN1 |
Ivone Leong Source NHS GMS was added to STN1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1 |
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| Ductal plate malformation v0.61 | STN1 | Ivone Leong Marked gene: STN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.61 | STN1 | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support the promotion of STN1 to a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.61 | STN1 | Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.61 | STN1 | Ivone Leong Publications for gene: STN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | STN1 |
Ivone Leong Source Expert Review Amber was added to STN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ductal plate malformation v0.26 | STN1 | Ivone Leong reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.25 | STN1 |
Ivone Leong gene: STN1 was added gene: STN1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) |
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