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| Genomic newborn screening: BabyScreen+ v0.2068 | STX16 | Zornitza Stark Marked gene: STX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2068 | STX16 | Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2068 | STX16 | Zornitza Stark Classified gene: STX16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2068 | STX16 | Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2067 | STX16 |
Zornitza Stark Tag treatable tag was added to gene: STX16. Tag endocrine tag was added to gene: STX16. |
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| Genomic newborn screening: BabyScreen+ v0.2063 | STX16 |
Lilian Downie gene: STX16 was added gene: STX16 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: STX16 were set to PMID: 33247854, PMID: 34477200, PMID: 29072892 Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB MIM#603233 Review for gene: STX16 was set to GREEN Added comment: characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH without other features of Albright hereditary osteodystrophy Rx Calcium, calcitriol, levothyroxine, growth hormone Sources: Expert list |
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