Pituitary hormone deficiency
Gene: SOX3As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:06 p.m.
Comment on list classification: Promoted from red to green. SOX3 is confirmed to be associated with Mental retardation, X-linked, with isolated growth hormone deficiency and X-linked panhypopituitarism in OMIM and Gene2Phenotype. It is also a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have variants in SOX3.Created: 10 Dec 2018, 2:52 p.m.
Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123) to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Ivone Leong: Comment on list classification
Gene: sox3 has been classified as Green List (High Evidence).
Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000) to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Gene: sox3 has been classified as Green List (High Evidence).
Publications for gene: SOX3 were set to
gene: SOX3 was added gene: SOX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center 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 (312000)