TTN

titin
OMIM: 188840, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green TTN in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive, 600334
Red TTN in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.9 Latest signed off version: v4.8 (1 May 2024) 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 South West GLH Expert Review Red Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 9,
Red TTN in Arrhythmogenic right ventricular cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 3.11 Latest signed off version: v3.10 (1 May 2024) 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Cardiomyopathy, dilated, 1G, 604145
Green TTN in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive (600334) Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807) Cardiomyopathy, dilated, 1G Cardiomyopathy, familial hypertrophic, 9 (613765) Salih myopathy (611705) Myopathy, proximal, with early respiratory muscle involvement (603689) Cardiomyopathy, dilated, 1G (604145)
Red TTN in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green TTN in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Congenital titinopathy with arthrogryposis Hereditary Myopathy with Early Respiratory Failure Cardiomyopathy, familial hypertrophic, 9, 613765 Hereditary Myopathy with Early Respiratory Failure (dominant) Udd Distal Myopathy (Dominant) Salih Myopathy (recessive) core myopathy with heart disease
Green TTN in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Salih myopathy, OMIM:611705
Green TTN in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, type 2J, 608807 Limb girdle muscular dystrophy Distal myopathy Myofibrillar myopathy Congenital myopathy dilated cardiomyopathy HMERF arthrogryposis
Green TTN in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.25 Latest signed off version: v2.23 (1 May 2024) 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 Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Myopathy, proximal, with early respiratory muscle involvement (603689) Cardiomyopathy, familial hypertrophic, 9 (613765) Tibial muscular dystrophy, tardive (600334) Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807) Cardiomyopathy, dilated, 1G (604145) Salih myopathy (611705) Cardiomyopathy, dilated, 1G
Green TTN in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes congenital titinopathy with arthrogryposis
Green TTN in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
Red TTN in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green TTN in Paediatric disorders - additional genes Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
Red TTN in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Expert Review Red
Green TTN in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G
Red TTN in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green TTN 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 Tibial muscular dystrophy, tardive, 600334 Salih myopathy, 611705 Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 Myopathy, myofibrillar, 9, with early respiratory failure, 603689 Cardiomyopathy, familial hypertrophic, 9, 613765 Cardiomyopathy, dilated, 1G, 604145