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| Hereditary systemic amyloidosis v0.18 | APOC3 | Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber as only 1 family reported.; to: Comment on list classification: Demoting from green to amber as only 1 family reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.9 | APOC3 | Eleanor Williams Classified gene: APOC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.9 | APOC3 | Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.9 | APOC3 | Eleanor Williams Gene: apoc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | APOC3 |
Eleanor Williams commented on gene: APOC3: Associated with Apolipoprotein C-III deficiency (#614028) only in OMIM. PMID: 26790392 - Valleix et al 2016 - report a French family with severe renal amyloidosis and hypotriglyceridemia, both caused by a novel D25V apoC-III variant. The D25V apoC-III variant was only found in family members affected with amyloidosis, hypotriglyceridemia and reduced apoC-III levels, and not in healthy normotriglycemic family members. A PubMed search with APOC3 or Apolipoprotein C-III and amyloidosis did not find any further cases. |
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| Hereditary systemic amyloidosis v0.4 | APOC3 | Eleanor Williams reviewed gene: APOC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26790392; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | APOC3 |
Eleanor Williams gene: APOC3 was added gene: APOC3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOC3 were set to 26790392 |
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