| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1966 | GHRHR | Zornitza Stark Marked gene: GHRHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1966 | GHRHR | Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1966 | GHRHR | Zornitza Stark Classified gene: GHRHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1966 | GHRHR | Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1965 | GHRHR |
Zornitza Stark Tag treatable tag was added to gene: GHRHR. Tag endocrine tag was added to gene: GHRHR. |
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| BabyScreen+ newborn screening v0.1965 | GHRHR |
Zornitza Stark gene: GHRHR was added gene: GHRHR was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHRHR were set to 8528260; 10084571; 11232012 Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV, MIM# 618157 Review for gene: GHRHR was set to GREEN Added comment: IGHD type IV is characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment. At least three unrelated families reported. Non-genetic confirmatory testing: growth hormone stimulation test Sources: Expert list |
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| BabyScreen+ newborn screening v0.1964 | GHR | Zornitza Stark Marked gene: GHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1964 | GHR | Zornitza Stark Gene: ghr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1964 | GHR | Zornitza Stark Classified gene: GHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1964 | GHR | Zornitza Stark Gene: ghr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1963 | GHR |
Zornitza Stark Tag treatable tag was added to gene: GHR. Tag endocrine tag was added to gene: GHR. |
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| BabyScreen+ newborn screening v0.1963 | GHR |
Zornitza Stark gene: GHR was added gene: GHR was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500 Review for gene: GHR was set to GREEN Added comment: Well established gene-disease association. Congenital onset. Treatment: growth hormone. Non-genetic confirmatory testing: growth hormone stimulation test Sources: Expert list |
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