Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v4.3 | RPS6KA3 |
Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: RPS6KA3. Tag Q3_23_demote_red was removed from gene: RPS6KA3. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v4.3 | RPS6KA3 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toredfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v4.3 | RPS6KA3 | Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v4.2 | RPS6KA3 |
Achchuthan Shanmugasundram Source Expert Review Red was added to RPS6KA3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.24 | RPS6KA3 | Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: RPS6KA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.10 | RPS6KA3 | Sarah Leigh Classified gene: RPS6KA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.10 | RPS6KA3 | Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.10 | RPS6KA3 | Sarah Leigh Gene: rps6ka3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.9 | RPS6KA3 | Sarah Leigh Tag Q3_23_demote_red tag was added to gene: RPS6KA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.9 | RPS6KA3 | Sarah Leigh edited their review of gene: RPS6KA3: Changed publications to: 16691578 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.9 | RPS6KA3 | Sarah Leigh reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v3.9 | RPS6KA3 | Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600 to Coffin-Lowry syndrome, OMIM:303600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v1.4 | RPS6KA3 | Zornitza Stark reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: 16691578; Phenotypes: Coffin-Lowry syndrome MIM#303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.19 | RPS6KA3 | David Lynch reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.15 | RPS6KA3 |
Catherine Snow Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Coffin-Lowry syndrome, 303600 for gene: RPS6KA3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RPS6KA3 | Catherine Snow reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Lowry syndrome, 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.10 | RPS6KA3 | Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.9 | RPS6KA3 | Ian Berry reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.8 | RPS6KA3 | Louise Daugherty Publications for gene RPS6KA3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.7 | RPS6KA3 |
Louise Daugherty Source Expert Review Green was added to RPS6KA3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.6 | RPS6KA3 | Louise Daugherty Source NHS GMS was added to RPS6KA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.5 | RPS6KA3 |
Louise Daugherty gene: RPS6KA3 was added gene: RPS6KA3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: RPS6KA3 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||