MYH3

myosin heavy chain 3
OMIM: 160720, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MYH3 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 MYH3 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700
Green MYH3 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Red MYH3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436 Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110 Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Red MYH3 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes paresthesia rhabdomyolysis
Green MYH3 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 Arthrogryposis, distal
Green MYH3 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469
Red MYH3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436