TPM3

tropomyosin 3
OMIM: 191030, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TPM3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TPM3 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAP myopathy 1, MIM# 609284 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284 Congenital muscle stiffness
Green TPM3 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Congenital myopathy 4A, autosomal dominant (MIM#255310) Congenital myopathy 4B, autosomal recessive (MIM#609284)
Green TPM3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Green TPM3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Congenital fiber-type disproportion myopathy
Green TPM3 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Green TPM3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Red TPM3 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes CAP myopathy 1, MIM# 609284 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284