TTN

PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
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
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 9,, Cardiomyopathy, dilated, 1G
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, early-onset, with fatal cardiomyopathy, 611705
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tibial muscular dystrophy, tardive, 600334
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital titinopathy with arthrogryposis
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2J, 608807, Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy, HMERF, arthrogryposis
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY