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| Genomic newborn screening: BabyScreen+ v0.1632 | ACVRL1 |
Zornitza Stark Tag treatable tag was added to gene: ACVRL1. Tag vascular tag was added to gene: ACVRL1. |
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| Genomic newborn screening: BabyScreen+ v0.864 | ACVRL1 | Zornitza Stark Publications for gene: ACVRL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.863 | ACVRL1 | Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.863 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.862 | ACVRL1 | Zornitza Stark Tag for review was removed from gene: ACVRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.862 | ACVRL1 |
Zornitza Stark changed review comment from: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available. However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available but emboli zing AVMs alters their natural history. Management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695. |
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| Genomic newborn screening: BabyScreen+ v0.862 | ACVRL1 | Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 |
Zornitza Stark changed review comment from: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available.; to: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available. However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695. |
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| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark edited their review of gene: ACVRL1: Changed publications: 32894695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark Tag for review tag was added to gene: ACVRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.188 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.187 | ACVRL1 | Zornitza Stark reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 |
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