IUGR and IGF abnormalities
Gene: SOX3
Comment on phenotypes: added phenotypeCreated: 25 Sep 2017, 2:31 p.m.
Comment on mode of inheritance: Changed from momoallelic to hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males. Gene is encoded on Xq27.1Created: 25 Sep 2017, 2:29 p.m.
Comment on mode of pathogenicity: Whole gene duplications are disease causingCreated: 2 May 2016, 8:37 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
Phenotypes for SOX3 were set to Panhypopituitarism, X-linked, 312000;Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
Phenotypes for SOX3 were set to Panhypopituitarism, X-linked, 312000
Mode of inheritance for SOX3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
Publications for SOX3 were set to 15800844
Mode of pathogenicity for SOX3 was changed to Other - please provide details in the comments
Mode of inheritance for SOX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SOX3 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory