Congenital hypothyroidism
Gene: TTF1EnsemblGeneIds (GRCh38): ENSG00000125482
EnsemblGeneIds (GRCh37): ENSG00000125482
OMIM: 600777, Gene2Phenotype
TTF1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Targeted sequencing panel study.Created: 3 Feb 2021, 9:29 a.m. | Last Modified: 3 Feb 2021, 9:29 a.m.
Panel Version: 0.21
Chirag Patel (Genetic Health Queensland)
5 cases, but one paper with limited additional evidence
Sources: LiteratureCreated: 3 Feb 2021, 4:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Publications
- PMID: 30022773
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- congenital hypothyroidism, thyroid dysgenesis, No OMIM #
- OMIM
- 600777
- Clinvar variants
- Variants in TTF1
- Penetrance
- None
- Publications
-
- PMID: 30022773
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TTF1 was added gene: TTF1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: TTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTF1 were set to PMID: 30022773 Phenotypes for gene: TTF1 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM # Review for gene: TTF1 was set to AMBER