TTN

PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 6.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salih myopathy, OMIM:611705
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
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
R-numbers: R132
Signed-off version 2.25
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
  • - Other rare neuromuscular disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tibial muscular dystrophy, tardive, 600334
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital titinopathy with arthrogryposis
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
BOTH monoallelic and 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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 9,, Cardiomyopathy, dilated, 1G