Activity
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| Malformations of cortical development v6.3 | COL3A1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: COL3A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v6.3 | COL3A1 | Achchuthan Shanmugasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v6.2 | COL3A1 |
Achchuthan Shanmugasundram Source NHS GMS was added to COL3A1. Source Expert Review Green was added to COL3A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v5.5 | COL3A1 | Eleanor Williams Classified gene: COL3A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.5 | COL3A1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber, with a recommendation for green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.5 | COL3A1 | Eleanor Williams Gene: col3a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.4 | COL3A1 | Eleanor Williams Tag Q2_24_promote_green tag was added to gene: COL3A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.4 | COL3A1 |
Eleanor Williams changed review comment from: 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 PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. ; to: 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 PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family (born of unrelated parents from Chechnya and Ingushetia), the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family with unrelated parents from the same mountain village in Chechnya, consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. |
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| Malformations of cortical development v5.4 | COL3A1 |
Eleanor Williams changed review comment from: 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; to: 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 PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. |
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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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