TBX1

T-box 1
OMIM: 602054, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TBX1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome (MIM#188400)
Green TBX1 in Mendeliome Version 1.3499	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity Tags SV/CNV
Green TBX1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.53	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TBX1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.135 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity Tags SV/CNV
Green TBX1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes DiGeorge syndrome, MIM# 188400 Tags SV/CNV
Green TBX1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes DiGeorge syndrome
Green TBX1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Velocardiofacial syndrome, MIM# 192430 Cleft palate Tags SV/CNV
Green TBX1 in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes DiGeorge syndrome, MIM# 188400
Green TBX1 in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 1.7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity
Red TBX1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Tags cardiac immunological
Green TBX1_TOF_GCN STR in Repeat Disorders Version 0.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tetralogy of Fallot MIM#187500 Tags paediatric-onset