Congenital myopathy
Gene: TPM3
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.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284
Publications
please note that adult onset forms of TTN gene related conditions have monoallelic inheritanceCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284
Publications
Comment when marking as ready: Many families, spans infancy in terms of onset. Mainly mono-allelic but biallelic in 10%Created: 2 Feb 2017, 12:17 p.m.
Comment on mode of inheritance: Of 40 families in the referenced paper, 4 had biallelic mutations.Created: 2 Feb 2017, 12:16 p.m.
Comment on list classification: Many families, variable presentation but spans early onset.Created: 2 Feb 2017, 12:14 p.m.
Dominant appear to be most common and associated with missense mutations. AR case identified was with truncating mutations. Onset spans infancy therefore included.Created: 26 Jan 2017, 1:20 p.m.
Phenotypes
CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284
Publications
Phenotypes for gene: TPM3 were changed from CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284 to CAP myopathy 1, OMIM:609284; Myopathy, congenital, with fiber-type disproportion, OMIM:255310; Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
Source NHS GMS was added to TPM3.
Source London South GLH was added to TPM3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
Phenotypes for TPM3 were set to CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284
Publications for TPM3 were set to 24692096
Mode of inheritance for TPM3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TPM3 was added to Congenital myopathypanel. Sources: Expert
TPM3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
TPM3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
TPM3 was added to Congenital myopathypanel. Sources: UKGTN
TPM3 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory