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| Genomic newborn screening: BabyScreen+ v0.1490 | SPTB |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, multi-system disorder Treatment: no specific treatment available (?Are these treatable by HSCT?) Non-genetic confirmatory test: not assessed; to: Established gene-disease association. Childhood onset, haematological disorder. Elliptocytosis, aneamia in some cases Treatment: no specific treatment available (?Are these treatable by HSCT?) Non-genetic confirmatory test: not assessed |
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| Genomic newborn screening: BabyScreen+ v0.1490 | SPTB | Seb Lunke Phenotypes for gene: SPTB were changed from Spherocytosis to Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1489 | SPTB | Seb Lunke Classified gene: SPTB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1489 | SPTB | Seb Lunke Gene: sptb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1488 | SPTB | Seb Lunke Tag for review tag was added to gene: SPTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1488 | SPTB | Seb Lunke reviewed gene: SPTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | SPTB |
Zornitza Stark gene: SPTB was added gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTB were set to Spherocytosis |
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