| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bleeding and platelet disorders v0.71 | RNU4ATAC | Louise Daugherty Classified gene: RNU4ATAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.71 | RNU4ATAC | Louise Daugherty Added comment: Comment on list classification: Downgraded rating from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.71 | RNU4ATAC | Louise Daugherty Gene: rnu4atac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.70 | RNU4ATAC |
Louise Daugherty changed review comment from: GLH reviews since webex on 8th March 2019: YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED WWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH NWGLH – this target is associated with pronounced syndromes so I would not include on R90 LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.; to: GLH reviews since webex on 8th March 2019: YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED WWMGLH- IT IS ON THE ISTH GENE LIST GREEN NWGLH – this target is associated with pronounced syndromes so I would not include on R90 LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.70 | RNU4ATAC |
Louise Daugherty commented on gene: RNU4ATAC: GLH reviews since webex on 8th March 2019: YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED WWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH NWGLH – this target is associated with pronounced syndromes so I would not include on R90 LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.56 | RNU4ATAC | Louise Daugherty commented on gene: RNU4ATAC: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.53 | RNU4ATAC | PATRICIA BIGNELL reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | RNU4ATAC | Steve Keeney reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 210710, # 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | RNU4ATAC | Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | RNU4ATAC | Carl Fratter reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | RNU4ATAC | Louise Daugherty Source NHS GMS was added to RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | RNU4ATAC |
Louise Daugherty Source Expert Review Green was added to RNU4ATAC. Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome for gene: RNU4ATAC Publications for gene RNU4ATAC were changed from to none submitted Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.2 | RNU4ATAC |
Louise Daugherty gene: RNU4ATAC was added gene: RNU4ATAC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RNU4ATAC was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||