TBL1X

transducin beta like 1 X-linked
OMIM: 300196, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TBL1X in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Green TBL1X in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.34	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Green TBL1X in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	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
Red TBL1X in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033
Green TBL1X in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Tags treatable endocrine