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| Skeletal dysplasia v1.0 | GHRHR | Gene migrated from ENSG00000106128 to ENSG00000106128 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.454 | GHRHR | Zornitza Stark reviewed gene: GHRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.454 | GHRHR | Sangavi Sivagnanasundram Classified gene: GHRHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.454 | GHRHR | Sangavi Sivagnanasundram Gene: ghrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.453 | GHRHR | Sangavi Sivagnanasundram Classified gene: GHRHR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.453 | GHRHR | Sangavi Sivagnanasundram Gene: ghrhr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.452 | GHRHR |
Sangavi Sivagnanasundram gene: GHRHR was added gene: GHRHR was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHRHR were set to PMID: 10084571, 8391647, 24450934 Phenotypes for gene: GHRHR were set to isolated growth hormone deficiency type IB MONDO:0013006 Review for gene: GHRHR was set to GREEN Added comment: Isolated growth hormone deficiency type IV (IGHD4) is characterised 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. Skeletal dysplasia/ delayed bone age is a feature of this condition. Sources: Other |
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