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| Genomic newborn screening: BabyScreen+ v0.2128 | DSP | Zornitza Stark Classified gene: DSP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2128 | DSP | Zornitza Stark Gene: dsp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2127 | DSP |
Zornitza Stark changed review comment from: Screen for bi-allelic disease as can be more severe, earlier onset.; to: Discussed screening for bi-allelic disease as can be more severe, earlier onset. Also discussed with paediatric cardiologist: variable age of onset and penetrance, exclude. |
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| Genomic newborn screening: BabyScreen+ v0.2127 | DSP | Zornitza Stark edited their review of gene: DSP: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1852 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1851 | DSP | Zornitza Stark Classified gene: DSP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1851 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1850 | DSP | Zornitza Stark Tag for review was removed from gene: DSP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1850 | DSP | Zornitza Stark edited their review of gene: DSP: Added comment: Screen for bi-allelic disease as can be more severe, earlier onset.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1760 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1760 | DSP | Zornitza Stark Gene: dsp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1760 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1759 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1758 | DSP |
Zornitza Stark Tag for review tag was added to gene: DSP. Tag cardiac tag was added to gene: DSP. Tag treatable tag was added to gene: DSP. |
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| Genomic newborn screening: BabyScreen+ v0.1758 | DSP | Zornitza Stark reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | DSP |
Zornitza Stark Source BabySeq Category B gene was added to DSP. Source Expert Review Amber was added to DSP. Source BabySeq Category A gene was added to DSP. Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Genomic newborn screening: BabyScreen+ v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 |
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