TBX1

T-box 1
OMIM: 602054, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TBX1 in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 SCID v1.6 IUIS Classification December 2019 GRID V2.0 Victorian Clinical Genetics Services ESID Registry 20171117 IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 SCID v1.6 Phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability DiGeorge syndrome 188400 Di George syndrome T-B+ SCID Severe combined immunodeficiency (SCID) Combined immunodeficiencies with associated or syndromic features
Green TBX1 in Familial hypoparathyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Other Phenotypes DiGeorge syndrome, OMIM:188400 Conotruncal anomaly face syndrome, OMIM:217095 Velocardiofacial syndrome, OMIM:192430
Red TBX1 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy, HP:0001639
Green TBX1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Other IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 SCID v1.6 Phenotypes DiGeorge syndrome, OMIM:188400 Conotruncal anomaly face syndrome, OMIM:217095 Velocardiofacial syndrome, OMIM:192430
Red TBX1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Tetralogy of Fallot
Green TBX1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes 22Q11.2 DELETION SYNDROME
Green TBX1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 22Q11.2 DELETION SYNDROME 188400
Red TBX1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green TBX1 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome, OMIM:188400 Conotruncal anomaly face syndrome, OMIM:217095 Velocardiofacial syndrome, OMIM:192430 Tags deletions structural-variant
Amber TBX1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay) DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties) Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation) Tags watchlist