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| Malformations of cortical development v4.25 | COL3A1 |
Eleanor Williams gene: COL3A1 was added gene: COL3A1 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to 19455184; 25205403; 28742248; 28258187 Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type EDS, OMIM:618343; polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688 Review for gene: COL3A1 was set to GREEN Added comment: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. Several cases reported: PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant. PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria Sources: Literature |
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| Malformations of cortical development v4.25 | COL3A1 |
Eleanor Williams gene: COL3A1 was added gene: COL3A1 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to 19455184; 25205403; 28742248; 28258187 Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type EDS, OMIM:618343; polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688 Review for gene: COL3A1 was set to GREEN Added comment: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. Several cases reported: PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant. PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria Sources: Literature |
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