Genomics England
GMS Panels
Panels
Genes and Entities

TTN

titin
OMIM: 188840
PanelMode of inheritanceDetails
8 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
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
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salih myopathy, OMIM:611705
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.8
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
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tibial muscular dystrophy, tardive, 600334
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital titinopathy with arthrogryposis
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.0
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
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 9,, Cardiomyopathy, dilated, 1G