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| Genomic newborn screening: BabyScreen+ v0.1663 | THRA | Zornitza Stark Marked gene: THRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1663 | THRA | Zornitza Stark Gene: thra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1663 | THRA | Zornitza Stark Phenotypes for gene: THRA were changed from Hypothyroidism, congenital, nongoitrous, 6 to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1662 | THRA | Zornitza Stark Publications for gene: THRA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1661 | THRA |
Zornitza Stark Tag treatable tag was added to gene: THRA. Tag endocrine tag was added to gene: THRA. |
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| Genomic newborn screening: BabyScreen+ v0.1661 | THRA | Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1643 | THRA |
John Christodoulou changed review comment from: Congenital nongoitrous hypothyroidism 6 normal TSH, so will be missed by NBS treatment with thyroxine; to: Congenital nongoitrous hypothyroidism 6 normal TSH, so will be missed by NBS treatment with thyroxine; others report that patients are resistant to thyroxine therapy (PMID: 28527577) |
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| Genomic newborn screening: BabyScreen+ v0.1643 | THRA | John Christodoulou edited their review of gene: THRA: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1643 | THRA | John Christodoulou reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, PMID: 32349464; Phenotypes: goitre, macrocephaly, delayed suture closure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6 |
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