TTN

titin
OMIM: 188840, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green TTN in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.417 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Salih myopathy Muscular dystrophy, limb-girdle, autosomal recessive 10
Green TTN in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.37 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145
Amber TTN in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy
Green TTN in Incidentalome Version 0.314	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags cardiac
Green TTN in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes TTN-related myopathy MONDO:0100175 Tags digenic
Green TTN in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1G, MIM# 604145
Green TTN in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis
Red TTN in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Phenotypes Congenital titinopathy exercise intolerance
Green TTN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Green TTN in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G
Amber TTN in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Centronuclear myopathy Cardiomyopathy, dilated
Green TTN in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Salih myopathy Muscular dystrophy, limb-girdle, autosomal recessive 10
Amber TTN in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Amber TTN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber BabySeq Category B gene Phenotypes Centronuclear myopathy Cardiomyopathy, dilated
Green TTN in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145