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| Pituitary hormone deficiency v2.97 | SOX2 | Sarah Leigh Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, OMIM:206900; anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.15 | SOX2 | Eleanor Williams reviewed gene: SOX2: Rating: ; Mode of pathogenicity: ; Publications: 16932809; Phenotypes: SEVERE EYE DEFECTS, DIPLEGIA, HYPOGONADOTROPHIC HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.71 | SOX2 | Ivone Leong commented on gene: SOX2: As 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | SOX2 | Ivone Leong Marked gene: SOX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | SOX2 | Ivone Leong Gene: sox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Classified gene: SOX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Gene: sox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.11 | SOX2 | Ivone Leong Publications for gene: SOX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.5 | SOX2 |
Ivone Leong gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900) |
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