TPM3

tropomyosin 3
OMIM: 191030, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TPM3 in Arthrogryposis Level 2: Neurology Version 9.32 Latest signed off version: v9.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes nemaline myopathy Nemaline Myopathy Nemaline myopathy 1, autosomal dominant or recessive, 609284 Myopathy, congenital, with fiber-type disproportion 255310
Green TPM3 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 1, OMIM:609284 Myopathy, congenital, with fiber-type disproportion, OMIM:255310 Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
Red TPM3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.41 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CAP myopathy 1, 609284 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Nemaline myopathy congenital myopathy
Green TPM3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Congenital fiber-type disproportion myopathy 255310
Green TPM3 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nemaline/Cap myopathy
Red TPM3 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Megacolon