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| Genomic newborn screening: BabyScreen+ v0.1687 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1687 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1687 | CASR | Zornitza Stark Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal, MIM# 239200 to Hypocalcemia, autosomal dominant MIM#601198; Hyperparathyroidism, neonatal MIM#239200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1686 | CASR | Zornitza Stark Mode of inheritance for gene: CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1685 | CASR |
Zornitza Stark changed review comment from: AD hypoCa: Established gene-disease association. Congenital onset. Treatment: Thiazide diuretics, calcium, calcitriol. Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association. Congenital onset. Treatment: Thiazide diuretics, calcium, calcitriol. Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium. AD/AR hyperparathyroidism: established gene-disease association. Congenital onset. Treatment: bisphosphonate, parathyroidectomy, cinacalcet Non-genetic confirmatory testing: Ca, PTH. |
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| Genomic newborn screening: BabyScreen+ v0.1685 | CASR |
Zornitza Stark changed review comment from: Established gene-disease association. Congenital onset. Treatment: Thiazide diuretics, calcium, calcitriol. Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association. Congenital onset. Treatment: Thiazide diuretics, calcium, calcitriol. Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium. |
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| Genomic newborn screening: BabyScreen+ v0.1685 | CASR | Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalcemia, autosomal dominant MIM#601198, Hyperparathyroidism, neonatal MIM#239200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1685 | CASR | Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980, Hyperparathyroidism, neonatal MIM#239200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1685 | CASR | Zornitza Stark edited their review of gene: CASR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1685 | CASR | Zornitza Stark Mode of inheritance for gene: CASR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1684 | CASR |
Zornitza Stark changed review comment from: Treatment: Thiazide diuretics, calcium, calcitriol; to: Established gene-disease association. Congenital onset. Treatment: Thiazide diuretics, calcium, calcitriol. Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium. |
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| Genomic newborn screening: BabyScreen+ v0.1684 | CASR | Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1684 | CASR | Zornitza Stark reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1675 | CASR |
Zornitza Stark Tag treatable tag was added to gene: CASR. Tag endocrine tag was added to gene: CASR. |
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| Genomic newborn screening: BabyScreen+ v0.0 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200 |
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