TBX1

T-box 1
OMIM: 602054, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TBX1 in COVID-19 research Level 2: Viral research Version 1.142	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
Amber TBX1 in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.14 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes DiGeorge syndrome, OMIM:188400 Conotruncal anomaly face syndrome, OMIM:217095 Velocardiofacial syndrome, OMIM:192430 Tags Q1_23_promote_green
Green TBX1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Red TBX1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.80	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Tetralogy of Fallot
Green TBX1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	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 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green TBX1 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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
Green TBX1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes DiGeorge syndrome, 188400 Tetralogy of Fallot, 187500 Conotruncal anomaly face syndrome, 217095 Velocardiofacial syndrome, 192430