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Fetal anomalies

Gene: TG

Red List (low evidence)
TG (thyroglobulin)
EnsemblGeneIds (GRCh38): ENSG00000042832
EnsemblGeneIds (GRCh37): ENSG00000042832
OMIM: 188450, Gene2Phenotype
TG is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

As below - can this be detected prenatally - seems so. PMID:33832185 - presented during labour; PMID:19169491 - Two siblings with severe congenital hypothyroidism with fetal and neonatal goiter ; PMID:28620499 - proband had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios; PMID:18631008 - two siblings had fetal or neonatal goiter and all had hypothyroidism; PMID:12915634 - further case. Red - would suggest hypothyriodism panel instead
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 3, OMIM:274700

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Thyroid dyshormonogenesis 3, OMIM:274700
OMIM
188450
Clinvar variants
Variants in TG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TG was added gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634 Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700