Activity
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9 actions
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| Additional findings_Paediatric v0.2 | SDHC |
Zornitza Stark gene: SDHC was added gene: SDHC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Additional findings_Paediatric v0.2 | SDHB |
Zornitza Stark gene: SDHB was added gene: SDHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Additional findings_Paediatric v0.2 | SDHAF2 |
Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Additional findings_Paediatric v0.2 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive |
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| Additional findings_Paediatric v0.2 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Additional findings_Paediatric v0.2 | GLB1 | Zornitza Stark Added phenotypes Gangliosidosis GM1 for gene: GLB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GAN | Zornitza Stark Added phenotypes Giant axonal neuropathy for gene: GAN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1 |
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| Additional findings_Paediatric v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy |
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