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| Skeletal dysplasia v3.3 | GHR | Arina Puzriakova Phenotypes for gene: GHR were changed from {Hypercholesterolemia, familial, modification of}, 143890; Growth hormone insensitivity; Short stature, 604271; increased responsiveness to growth hormone 604271; Increased responsiveness to growth hormone; Laron dwarfism, 262500; Proportionate Short Stature/Small for Gestational Age to Laron dwarfism, OMIM:262500; Growth hormone insensitivity, partial, OMIM:604271; Increased responsiveness to growth hormone, OMIM:604271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | GHR | Eleanor Williams Added phenotypes increased responsiveness to growth hormone 604271; Laron dwarfism, 262500; Growth hormone insensitivity for gene: GHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | GHR | Tracy Lester reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Laron dwarfism, 262500, Growth hormone insensitivity, increased responsiveness to growth hormone 604271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | GHR | Eleanor Williams reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | GHR |
Eleanor Williams Source NHS GMS was added to GHR. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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