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Ductal plate malformation v1.9 | TERT |
Ivone Leong Source NHS GMS was added to TERT. Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807 |
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Ductal plate malformation v0.63 | TERT | Ivone Leong Marked gene: TERT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to suggest TERT causes ductal plate malformation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Publications for gene: TERT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | TERT |
Ivone Leong Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.26 | TERT | Ivone Leong reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: 19936245, 21483807, 21436073; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.2 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989) |