TBL1X:Ensemblv115

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green TBL1X in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Green TBL1X in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Green Genomics England PanelApp Phenotypes isolated mild-moderate central hypothyroidism Hypothyroidism, congenital, nongoitrous, 8, 301033
Green TBL1X in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Tags treatable endocrine

3 panels