Activity
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15 actions
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| Fetal anomalies v2.10 | COL1A2 |
Arina Puzriakova Tag Q3_22_MOI was removed from gene: COL1A2. Tag Q3_22_expert_review was removed from gene: COL1A2. |
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| Fetal anomalies v2.10 | COL1A2 | Arina Puzriakova commented on gene: COL1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | COL1A2 |
Arina Puzriakova Source NHS GMS was added to COL1A2. Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Fetal anomalies v1.976 | COL1A2 | Eleanor Williams Tag Q3_22_expert_review tag was added to gene: COL1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.974 | COL1A2 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the MOI as both mono and biallelic for now, but only Ehlers-Danlos syndrome, cardiac valvular type is associated with biallelic variants and this does not seem relevant to the fetal panel. Recommendation to change to Monoallelic only, if the GMS groups agree. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.974 | COL1A2 | Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.973 | COL1A2 | Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.858 | COL1A2 |
Eleanor Williams changed review comment from: The mode of inheritance for the following phenotypes is monoallelic. - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.; to: Variants in this gene are associated with the following phenotypes in OMIM with a monoallelic mode of inheritance: - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance. |
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| Fetal anomalies v1.858 | COL1A2 | Eleanor Williams commented on gene: COL1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.185 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A2 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.184 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in COL1A2 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL1A2 | Rebecca Foulger reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL1A2 | Rebecca Foulger Added phenotypes Osteogenesis imperfecta for gene: COL1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL1A2 |
Rebecca Foulger gene: COL1A2 was added gene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome |
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