TBX1:Ensemblv115

T-box transcription factor 1
OMIM: 602054, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TBX1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes DiGeorge syndrome (MIM#188400)
Green TBX1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TBX1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green 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 Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes DiGeorge syndrome
Green TBX1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Velocardiofacial syndrome, MIM# 192430 Cleft palate Tags SV/CNV
Green TBX1 in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Literature Expert Review Green 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