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| Fetal anomalies v8.26 | GH1 | Ida Ertmanska commented on gene: GH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | GH1 | Sarah Graham reviewed gene: GH1: Rating: RED; Mode of pathogenicity: ; Publications: 24497717, 41073961; Phenotypes: Growth hormone deficiency, isolated, type II, OMIM:173100, Growth hormone deficiency, isolated, type IB, OMIM:612781, Growth hormone deficiency, isolated, type IA, OMIM:262400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | GH1 |
Ida Ertmanska gene: GH1 was added gene: GH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GH1 were set to 24497717; 41073961 Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type IA, OMIM:262400 |
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