Hyperthyroidism
Gene: TRU-TCA1-12 reviews
Eleanor Williams (Genomics England Curator)
Ensembl identifiers not available for GRCh37 (release 82) or GRCh38 (release 90)Created: 8 Jul 2020, 2:48 p.m. | Last Modified: 8 Jul 2020, 2:48 p.m.
Panel Version: 2.6
Louise Daugherty (Genomics England Curator)
At present we offer THRA, SECISBP2 and TRNAU1 sequencing on a research basis to clinicians who refer cases fulfilling the clinical and biochemical criteria that you indicate.
Krishna Chatterjee
Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge
Created: 15 Mar 2017, 4:51 p.m.
Report variants in this gene as part of diagnostic practice : Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge (From expert review Krishna Chatterjee and Carla Moran)Created: 15 Mar 2017, 4:50 p.m.
Comment when marking as ready: gene has been assessed for involvement in Resistance to thyroid hormone according to expert reviews and further curationCreated: 15 Mar 2017, 3:48 p.m.
Comment on list classification: Note on Red Rating: because this gene encodes transfer RNA it currently can only be given Red gene status in PanelApp as we currently only use protein-coding and mitochondrial genes for tiering.Created: 15 Mar 2017, 3:29 p.m.
Note that official gene symbol TRU-TCA1-1 was previously TRNAU1 (and can be still referred to in the literature with the synonym as TRNASEC).Created: 14 Mar 2017, 4:35 p.m.
Added tag locus-type-rna-transfer to explain why there is no Ensembl gene ID for this entityCreated: 4 Mar 2017, 7:22 p.m.
Mode of inheritance
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Expert list
- Tags
- OMIM
- 165060
- Clinvar variants
- Variants in TRU-TCA1-1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: TRU-TCA1-1.
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to expert reviews and further curation
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)TRU-TCA1-1 was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Louise Daugherty (Genomics England Curator)TRU-TCA1-1 was added to Resistance to thyroid hormonepanel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)TRU-TCA1-1 was created by LouiseD