| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Paediatric v0.2 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome |
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| Additional findings_Paediatric v0.2 | SMO |
Zornitza Stark gene: SMO was added gene: SMO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMO were set to Medulloblastoma |
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| Additional findings_Paediatric v0.2 | DHCR24 |
Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to Desmosterolosis |
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| Additional findings_Paediatric v0.2 | CTDP1 |
Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy |
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| Additional findings_Paediatric v0.2 | B3GAT3 |
Zornitza Stark gene: B3GAT3 was added gene: B3GAT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
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