Congenital hypothyroidism
Region: STRTSShort tandem repeat, Thyroid-specific
GRCh37 Position: 89112665-89112680
GRCh38 Position: 88569434-88569449
Haploinsufficiency Score: No evidence to suggest that dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score: No evidence to suggest that dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 0%
Variant types: Small variants
3 reviews
Sarah Leigh (Genomics England Curator)
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.Created: 12 Mar 2025, 5:53 p.m. | Last Modified: 12 Mar 2025, 5:53 p.m.
Panel Version: 2.23
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.Created: 12 Mar 2025, 10:10 a.m. | Last Modified: 18 Mar 2025, 3:14 p.m.
Panel Version: 2.23
Nadia Schoenmakers (University of Cambridge)
Usually compensated hyperthyrotropinaemia. MNG may develop, usually in later life. Thyroglobulin usually raised.Created: 5 Mar 2025, 11:03 a.m. | Last Modified: 5 Mar 2025, 11:03 a.m.
Panel Version: 2.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
congenital hypothyroidism; subclinical hypothyroidism; TSH Resistance (RTSH); multi nodular goitre
Publications
Adam Gunning (Exeter Genomics Laboratory)
Sources: Literature, NHS GMSCreated: 5 Mar 2025, 8:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hypothyroidism; Small thyroid (in children); Multinodular goitre (with age, if untreated); Elevated serum TSH
Publications
Details
- ISCA ID
- STRTS
- ISCA Region Name
- Short tandem repeat, Thyroid-specific
- Chromosome
- 15
- GRCh37 Coordinates
- 89112665-89112680
- GRCh38 Coordinates
- 88569434-88569449
- Haploinsufficiency Score
- No evidence to suggest that dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- No evidence to suggest that dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 0%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Congenital hypothyroidism
- Small thyroid (in children)
- Multinodular goitre (with age, if untreated)
- Elevated serum TSH
- Tags
- Clinvar variants
- Variants in
- Penetrance
- Complete
- Variant types
- Small variants
- Publications
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag curated_removed tag was added to Region: STRTS.
Set publications
Sarah Leigh (Genomics England Curator)Publications for Region: STRTS were set to PMID: 38714869; 15870119
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Adam Gunning (Exeter Genomics Laboratory)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