TBX5

T-box 5
OMIM: 601620, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TBX5 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Holt-Oram syndrome,142900
Green TBX5 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory
Green TBX5 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Viapath Phenotypes Holt-Oram syndrome,142900 Polydactyly Holt-Oram syndrome 142900 Radial Ray abnormality
Amber TBX5 in Progressive cardiac conduction disease Level 2: Cardiology Version 2.13 Latest signed off version: v2.10 (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, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH Phenotypes Holt-Oram syndrome, OMIM:142900
Green TBX5 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Holt-Oram syndrome, 142900
Green TBX5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Holt-Oram syndrome 142900
Amber TBX5 in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.11 Latest signed off version: v3.0 (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, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Holt-Oram syndrome, OMIM:142900 Dilated cardiomyopathy
Green TBX5 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 HOLT-ORAM SYNDROME
Green TBX5 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 HOLT-ORAM SYNDROME 142900
Red TBX5 in Intellectual disability Level 2: Developmental disorders Version 9.285 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, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Holt-Oram syndrome, 142900