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| Arthrogryposis v0.177 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.177 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.177 | TTN | Zornitza Stark Classified gene: TTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.177 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.176 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 24105469; 31660661; 29575618; 28040389 Phenotypes for gene: TTN were set to Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10 Review for gene: TTN was set to GREEN Added comment: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures. Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Two families with AMC and biallelic truncating mutations in 29575618; 28040389. Sources: Expert list |
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