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| Polycystic liver disease v1.23 | TERT | Ivone Leong Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) to {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989; {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.8 | TERT | Ivone Leong changed review comment from: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.; to: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that TERT will remain as an amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | TERT | Ivone Leong Marked gene: TERT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | TERT | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | TERT | Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.2 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 21436073; 19936245; 21483807 Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) |
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