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| Genomic newborn screening: BabyScreen+ v0.1632 | AVPR2 | Zornitza Stark Tag endocrine tag was added to gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.119 | AVPR2 |
Zornitza Stark changed review comment from: Well established gene-disease association. Onset in infancy. Causes severe dehydration, can be life-threatening. Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin. Clinical trials.; to: Well established gene-disease association. Onset in infancy. Causes severe dehydration, can be life-threatening. Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin. Clinical trials. Around 10% of variants are large deletions. |
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| Genomic newborn screening: BabyScreen+ v0.119 | AVPR2 | Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.117 | AVPR2 | Zornitza Stark Marked gene: AVPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.117 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.117 | AVPR2 |
Zornitza Stark Tag treatable tag was added to gene: AVPR2. Tag clinical trial tag was added to gene: AVPR2. |
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| Genomic newborn screening: BabyScreen+ v0.117 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800 |
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