Muscular dystrophy and myopathy_Paediatric
Gene: TPM2
- Variable age of onset
- Phenotypic symptoms overlap with CAP syndrome
PMID: 17846275
2 individuals identified with mutations in TPM2 however only one had clinical features and a muscle biopsy (with an accumulation of nemaline rods), concordant with nemaline myopathy.
PMID: 23378224
8 individuals from 5 unrelated families
Presence of congenital contractures in early childhood and all had the presence of rods in their muscle biopsies
Sources: OtherCreated: 9 May 2023, 3:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline myopathy 4, autosomal dominant (MIM#609285)
Publications
Well reported in patients with a congenital muscle weakness phenotype, likely due to loss-of-function variants.Created: 1 Jul 2020, 5:49 a.m. | Last Modified: 1 Jul 2020, 5:49 a.m.
Panel Version: 0.246
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAP myopathy 2 (MIM#609285); Nemaline myopathy 4, autosomal dominant (MIM#609285)
Publications
Gene: tpm2 has been classified as Green List (High Evidence).
Gene: tpm2 has been classified as Green List (High Evidence).
gene: TPM2 was added gene: TPM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 17846275; 23378224 Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant (MIM#609285) Review for gene: TPM2 was set to GREEN