TTN

titin
OMIM: 188840, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green TTN in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 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 1.48 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	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 1.10 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy
Green TTN in Incidentalome Version 0.360	3 reviews	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 1.108 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	3 reviews	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 1.130	1 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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 1.26 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	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 0.110	0 reviews	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 0.207	1 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	0 reviews	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 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Salih myopathy Muscular dystrophy, limb-girdle, autosomal recessive 10
Green TTN in Prepair 1000+ Level 2: Screening Version 2.14	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes TTN-related myopathy MONDO:0100175
Amber TTN in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	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 Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145
Red TTN in Infertility and Recurrent Pregnancy Loss Version 1.50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lethal congenital contracture syndrome, MONDO:0017436