Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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15 actions
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| Retinal disorders v8.99 | POC5 | Arina Puzriakova Tag gene-checked tag was added to gene: POC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.98 | POC5 |
Eleanor Williams Tag Q3_25_promote_green was removed from gene: POC5. Tag Q3_25_NHS_review was removed from gene: POC5. |
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| Retinal disorders v8.97 | POC5 | Eleanor Williams reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | POC5 |
Eleanor Williams Source Expert Review Green was added to POC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v8.23 | POC5 |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. |
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| Retinal disorders v8.13 | POC5 | Arina Puzriakova Classified gene: POC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.13 | POC5 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. |
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| Retinal disorders v8.13 | POC5 | Arina Puzriakova Gene: poc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.12 | POC5 | Arina Puzriakova Phenotypes for gene: POC5 were changed from to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.11 | POC5 | Arina Puzriakova Publications for gene: POC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.10 | POC5 | Arina Puzriakova Mode of inheritance for gene: POC5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.9 | POC5 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: POC5. Tag Q3_25_NHS_review tag was added to gene: POC5. |
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| Retinal disorders v8.6 | POC5 | Siying Lin reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29272404, 40590205; Phenotypes: Retinal dystrophy, diabetes mellitus, lipodystrophy, renal failure, abnormal muscle physiology; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | POC5 | Ivone Leong reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | POC5 |
Ivone Leong gene: POC5 was added gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: POC5 was set to |
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