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| Ductal plate malformation v1.9 | RTEL1 |
Ivone Leong Source NHS GMS was added to RTEL1. Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1 |
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| Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Marked gene: RTEL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to promote RTEL1 to a green gene for the ductal plate malformation panel. Therefore, keeping it as amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Publications for gene: RTEL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | RTEL1 |
Ivone Leong Source Expert Review Amber was added to RTEL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ductal plate malformation v0.26 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28495916; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.2 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) |
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