| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.29 | HESX1 | Zornitza Stark Marked gene: HESX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.29 | HESX1 | Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.29 | HESX1 | Zornitza Stark Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.28 | HESX1 | Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HESX1 were set to 9620767; 26416826 (2015 review); 11136712 Phenotypes for gene: HESX1 were set to GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism |
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