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Hypogonadotropic hypogonadism v1.29 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 v1.23 SOX3 Anna de Burca gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism. Sources: Expert list
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
Review for gene: SOX3 was set to AMBER
Added comment: Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list