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| Familial hypercholesterolaemia v0.35 | APOB |
Sangavi Sivagnanasundram changed review comment from: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:004156 Mechanism of disease is LoF that typically impair LDL-C binding to the LDLR.; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:004156 |
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| Familial hypercholesterolaemia v0.35 | APOB | Bryony Thompson Added comment: Comment on mode of pathogenicity: The mechanism for disease involves defective apo B100 on LDL particles that fail to bind to LDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.35 | APOB | Bryony Thompson Mode of pathogenicity for gene: APOB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.34 | APOB | Bryony Thompson Phenotypes for gene: APOB were changed from to hypercholesterolemia, autosomal dominant, type B MONDO:0007751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.33 | APOB | Bryony Thompson Publications for gene: APOB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.32 | APOB | Bryony Thompson Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.27 | APOB | Sangavi Sivagnanasundram reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24404629; Phenotypes: hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.25 | APOB | Zornitza Stark Tag treatable tag was added to gene: APOB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.0 | APOB |
Zornitza Stark gene: APOB was added gene: APOB was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOB was set to Unknown |
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