| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.7 | PLOD3 | Zornitza Stark Marked gene: PLOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.7 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.7 | PLOD3 | Zornitza Stark Classified gene: PLOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.7 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.5 | PLOD3 |
Zornitza Stark gene: PLOD3 was added gene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394 Review for gene: PLOD3 was set to GREEN Added comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families. Sources: Literature |
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| Aortopathy_Connective Tissue Disorders v0.5 | PLOD3 |
Zornitza Stark gene: PLOD3 was added gene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394 Review for gene: PLOD3 was set to GREEN Added comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families. Sources: Literature |
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