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| Genomic newborn screening: BabyScreen+ v0.1714 | SMPD1 |
Zornitza Stark Tag treatable tag was added to gene: SMPD1. Tag metabolic tag was added to gene: SMPD1. |
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| Genomic newborn screening: BabyScreen+ v0.1406 | SMPD1 | Seb Lunke Marked gene: SMPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1406 | SMPD1 | Seb Lunke Gene: smpd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1406 | SMPD1 | Seb Lunke Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B; Niemann-Pick disease, type A to Niemann-Pick disease, type A, MIM# 257200; Niemann-Pick disease, type B, MIM# 607616 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1405 | SMPD1 | Seb Lunke Publications for gene: SMPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1404 | SMPD1 | Seb Lunke reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301544; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, Niemann-Pick disease, type B, MIM# 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A |
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