TPM2

tropomyosin 2
OMIM: 190990, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TPM2 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Nemaline myopathy 4, autosomal dominant 609285 CAP myopathy 2 609285
Green TPM2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Arthrogryposis, distal, type 2B, 601680 Nemaline myopathy 4, autosomal dominant, 609285 CAP myopathy 2, 609285 Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, Type 1A DA1A Arthrogryposis, Distal, Type 2B DA2B distal arthrogryposis Escobar syndrome congenital myopathy nemaline myopathy Nemaline Myopathy, Dominant
Green TPM2 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 2, OMIM:609285 Nemaline myopathy 4, autosomal dominant, OMIM:609285 Tags watchlist_moi Q2_23_MOI Q2_23_NHS_review
Red TPM2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120
Green TPM2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 1 Arthrogryposis multiplex congenita, distal, type 1, 108120 Arthrogryposis, distal, type 2B, 601680
Green TPM2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
Green TPM2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes CAP myopathy 2, 609285 Arthrogryposis, distal, type 2B4, 108120 Nemaline myopathy 4, autosomal dominant, 609285 Arthrogryposis, distal, type 1A, 108120