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| BabyScreen+ newborn screening v0.1153 | SLC18A2 |
Zornitza Stark Tag for review was removed from gene: SLC18A2. Tag treatable tag was added to gene: SLC18A2. Tag neurological tag was added to gene: SLC18A2. |
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| BabyScreen+ newborn screening v0.1094 | SLC18A2 |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset neurological condition. Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children. Non-genetic confirmatory test: blood pressure measurement and sodium, potassium, aldosterone, renin levels; to: Established gene-disease association. Childhood onset neurological condition. Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children. Non-genetic confirmatory test: whole blood serotonin level |
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| BabyScreen+ newborn screening v0.1094 | SLC18A2 | Seb Lunke Marked gene: SLC18A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1094 | SLC18A2 | Seb Lunke Added comment: Comment when marking as ready: Is evidence for treatment sufficient? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1094 | SLC18A2 | Seb Lunke Gene: slc18a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1094 | SLC18A2 | Seb Lunke Tag for review tag was added to gene: SLC18A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1094 | SLC18A2 | Seb Lunke reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SLC18A2 |
Zornitza Stark gene: SLC18A2 was added gene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049 |
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