| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ductal plate malformation v1.9 | TERC |
Ivone Leong Source NHS GMS was added to TERC. Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970 |
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| Ductal plate malformation v0.62 | TERC | Ivone Leong Marked gene: TERC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.62 | TERC | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support promoting TERC to a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.62 | TERC | Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.62 | TERC | Ivone Leong Publications for gene: TERC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | TERC |
Ivone Leong Source Expert Review Amber was added to TERC. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ductal plate malformation v0.26 | TERC | Ivone Leong reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341970, 21436073, 19936245; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.2 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550) |
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