Congenital hypothyroidism
Gene: TTF2EnsemblGeneIds (GRCh38): ENSG00000116830
EnsemblGeneIds (GRCh37): ENSG00000116830
OMIM: 604718, Gene2Phenotype
TTF2 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
1 case only
Sources: LiteratureCreated: 3 Feb 2021, 4:34 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 Red
- Literature
- Phenotypes
-
- congenital hypothyroidism, thyroid dysgenesis, No OMIM #
- OMIM
- 604718
- Clinvar variants
- Variants in TTF2
- 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: ttf2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TTF2 was added gene: TTF2 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTF2 were set to PMID: 30022773 Phenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM # Review for gene: TTF2 was set to RED