TPM2

tropomyosin 2
OMIM: 190990, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TPM2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1A/2B4 (MIM#108120)
Green TPM2 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1A 108120 Arthrogryposis, distal, type 2B4 108120 CAP myopathy 2 609285 Nemaline myopathy 4, autosomal dominant 609285 Multiple pterygium syndrome
Green TPM2 in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple pterygium syndrome
Green TPM2 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Nemaline myopathy 4, autosomal dominant (MIM#609285)
Green TPM2 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 Arthrogryposis multiplex congenita, distal
Green TPM2 in Fetal anomalies Version 1.313	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Arthrogryposis, distal, type 2B, 601680 Multiple pterygium syndrome
Red TPM2 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 Arthrgryposis MIM#108120 Nemaline myopathy MIM#609285