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| BabyScreen+ newborn screening v1.114 | LBR | Tommy Li Added phenotypes Pelger-Huet anomaly; Reynolds syndrome for gene: LBR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening v0.0 | LBR |
Zornitza Stark gene: LBR was added gene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome |
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