Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: TPM3Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 3:31 p.m. | Last Modified: 28 Nov 2019, 4:09 p.m.
Panel Version: 1.108
CAP myopathy, nemaline myopathy, congenital myopathy with fibre type disproportionCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy; congenital myopathy
Publications
Gene: tpm3 has been classified as Red List (Low Evidence).
Source NHS GMS was added to TPM3.
Source Yorkshire and North East GLH was added to TPM3.
Phenotypes for gene: TPM3 were changed from CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284; Nemaline myopathy; congenital myopathy
Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 for gene: TPM3 Publications for gene TPM3 were changed from to 7704029; 10619715
gene: TPM3 was added gene: TPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TPM3 was set to