TPM3

tropomyosin 3
OMIM: 191030, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TPM3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TPM3 in Mendeliome Version 1.2302	1 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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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	0 reviews	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	0 reviews	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 1.313	1 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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital myopathy 4B, autosomal recessive MIM#609284
Red TPM3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 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