Familial hypoparathyroidism
Gene: SOX3Comment when marking as ready: Only evidence for association of SOX3 with hypoparathyroidism is "An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism" PMID 6167084Created: 6 Jun 2016, 8:17 a.m.
Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 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
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene SOX3 were set to Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000
This gene has been classified as Red List (Low Evidence).
Model 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 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000
SOX3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list