Date Panel Item Activity
3 actions
Hypogonadotropic hypogonadism (GMS) v1.11 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Hypogonadotropic hypogonadism (GMS) v0.7 SOX3 Simon Thomas reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.6 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked