Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350 |