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| Hereditary systemic amyloidosis v1.11 | APOA1 | Sarah Leigh changed review comment from: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, table 1).; to: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, 24 variants listed in table 1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.11 | APOA1 | Sarah Leigh edited their review of gene: APOA1: Added comment: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, table 1).; Changed rating: GREEN; Changed publications to: 32022753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.11 | APOA1 | Sarah Leigh Publications for gene: APOA1 were set to 27240838; 21820994; 16925563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.10 | APOA1 |
Sarah Leigh Added comment: Comment on mode of inheritance: Both biallelic and monoallelic variants have been associated with ApoA-I and apoC-III deficiency, combined OMIM:618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766 |
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| Hereditary systemic amyloidosis v1.10 | APOA1 | Sarah Leigh Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.9 | APOA1 | Sarah Leigh Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types 105200 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.14 | APOA1 | Eleanor Williams Phenotypes for gene: APOA1 were changed from 105200 to Amyloidosis, 3 or more types 105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | APOA1 |
Eleanor Williams commented on gene: APOA1: Associated with Amyloidosis, 3 or more types (#105200) in OMIM. More than 3 cases reported. |
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| Hereditary systemic amyloidosis v0.4 | APOA1 | Eleanor Williams reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820994, 16925563, 27240838; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | APOA1 |
Eleanor Williams gene: APOA1 was added gene: APOA1 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 27240838; 21820994; 16925563 Phenotypes for gene: APOA1 were set to 105200 |
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