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  2. Congenital hypothyroidism
  3. TBL1X
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Congenital hypothyroidism

Gene: TBL1X

Green List (high evidence)
TBL1X (transducin beta like 1 X-linked)
EnsemblGeneIds (GRCh38): ENSG00000101849
EnsemblGeneIds (GRCh37): ENSG00000101849
OMIM: 300196, Gene2Phenotype
TBL1X is in 5 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • isolated mild-moderate central hypothyroidism
  • Hypothyroidism, congenital, nongoitrous, 8, 301033
OMIM
300196
Clinvar variants
Variants in TBL1X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBL1X was added gene: TBL1X was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBL1X were set to 27603907; 30591955 Phenotypes for gene: TBL1X were set to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033