| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.34 | TRHR | Zornitza Stark Marked gene: TRHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.34 | TRHR | Zornitza Stark Gene: trhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.34 | TRHR | Zornitza Stark Phenotypes for gene: TRHR were changed from mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.33 | TRHR | Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | TRHR |
Zornitza Stark gene: TRHR was added gene: TRHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRHR were set to PMID: 19213692; PMID: 9141550 Phenotypes for gene: TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized |
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