Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.23 | STRTS |
Sarah Leigh changed review comment from: This is an intergenic STR. The STR can be seen using the coordinates 15:88569434-88569449 http://may2024.archive.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000144218;r=15:88569412-88569475; to: This is an intergenic STR. The STR can be seen using the coordinates 15:88569434-88569449 http://may2024.archive.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000144218;r=15:88569412-88569475 The pathogenic variant of this STR is NOT an expansion, it is a reduction: normal is 4 repeats and disease is 3 repeats or a base change in one of the 4 repeats. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.23 | STRTS | Sarah Leigh commented on Region: STRTS: The curator_removed tag has been added to this entry on PanelApp, because this entity is a short tandem repeat (STR) and not a region. This STR will be added to PanelApp in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.23 | STRTS | Sarah Leigh Tag curated_removed tag was added to Region: STRTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.23 | STRTS | Sarah Leigh commented on Region: STRTS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.23 | STRTS | Sarah Leigh Publications for Region: STRTS were set to PMID: 38714869; 15870119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.22 | STRTS | Nadia Schoenmakers reviewed Region: STRTS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38714869, 38714868; Phenotypes: congenital hypothyroidism, subclinical hypothyroidism, TSH Resistance (RTSH), multi nodular goitre; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.22 | STRTS |
Adam Gunning Region: STRTS was added Region: STRTS was added to Congenital hypothyroidism. Sources: Literature,NHS GMS Mode of inheritance for Region: STRTS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: STRTS were set to PMID: 38714869; 15870119 Phenotypes for Region: STRTS were set to Congenital hypothyroidism; Small thyroid (in children); Multinodular goitre (with age, if untreated); Elevated serum TSH Penetrance for Region: STRTS were set to Complete Review for Region: STRTS was set to GREEN Added comment: Sources: Literature, NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||