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| Inherited renal cancer v1.23 | ELOC |
Achchuthan Shanmugasundram changed review comment from: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far. A female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). This is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far. This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. Sources: Literature; to: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far. A female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). This is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far. This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. Sources: Literature |
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| Inherited renal cancer v1.23 | ELOC |
Achchuthan Shanmugasundram gene: ELOC was added gene: ELOC was added to Inherited renal cancer. Sources: Literature Mode of inheritance for gene: ELOC was set to Unknown Publications for gene: ELOC were set to 35323939 Phenotypes for gene: ELOC were set to von Hippel-Lindau disease, MONDO:0008667; renal cell carcinoma, MONDO:0005086; retinal hemangioblastoma, MONDO:0003343 Review for gene: ELOC was set to RED Added comment: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far. A female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). This is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far. This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. Sources: Literature |
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| Inherited renal cancer v1.11 | VHL | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.11 | VHL | Arina Puzriakova Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.45 | VHL | Rebecca Foulger Publications for gene: VHL were set to PMID: 27899189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | VHL | Ivone Leong commented on gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.13 | VHL | Ivone Leong Classified gene: VHL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.13 | VHL | Ivone Leong Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.3 | VHL | Lara Hawkes reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.2 | VHL |
Ivone Leong Source Expert List was added to VHL. Rating Changed from No List (delete) to Red List (low evidence) |
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| Inherited renal cancer v0.1 | VHL |
Rachel Robinson gene: VHL was added gene: VHL was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VHL were set to PMID: 27899189 Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater Penetrance for gene: VHL were set to Complete Review for gene: VHL was set to GREEN gene: VHL was marked as current diagnostic Added comment: Sources: UKGTN |
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