Congenital myopathy

Gene: TTN

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, early-onset, with fatal cardiomyopathy 611705

Publications

• 17444505
• 23975875
• 28295036

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, early-onset, with fatal cardiomyopathy 611705

Publications

• 17444505
• 23975875

I don't know

Comment when marking as ready: Cause of congenital myopathy (preceding cardiomyopathy) in >4 families in association with recessive truncating mutations

Created: 6 Feb 2017, 9:14 a.m.

Comment on phenotypes: This is the only phenotype considered appropriate for the congenital myopathy panel.

Created: 6 Feb 2017, 9:13 a.m.

Comment on mode of inheritance: Although monoallelic mutations can cause disease (predominantly cardiomyopathy) for the purposes of this panel, the appropriate phenotype is described as being caused by recessive truncating mutations (See PMIDs)

Created: 6 Feb 2017, 9:11 a.m.

Comment on list classification: 17444505 two families with recessive truncating mutations presenting with congenital / infantile myopathy. Subsequent onset of DCM in mid-childhood. 23975875 - five further individuals with recessive truncating mutations and (2/5) congenital onset myopathy.

Created: 6 Feb 2017, 9:09 a.m.

Myopathy, early onset with fatal cardiomyopathy described in association with homozygous truncating mutations in two families. AD inheritance seen in proximal myopathy with respiratory muscle involvement, however this has a later age of onset (average 35 years), therefore probably not relevant to congenital myopathy. Also well known to have a large range of missense mutations without clear pathological implication.

Created: 26 Jan 2017, 1:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, early-onset, with fatal cardiomyopathy 611705; Myopathy, proximal, with early respiratory muscle involvement 603689

Publications

• PMID 17444505

From Illumina information for this gene, Hereditary Myopathy with Early Respiratory Failure and Udd Distal Myopathy have a dominant mode of inheritance, whereas Salih Myopathy is recessive.

Created: 2 Jul 2015, 2:44 p.m.