MYH3

myosin heavy chain 3
OMIM: 160720, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MYH3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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
Green MYH3 in Blepharophimosis Level 2: Ophthalmological disorders Version 2.0	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 2.0	1 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 2.0	1 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
Green MYH3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	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 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis, distal
Green MYH3 in Fetal anomalies Version 2.0	2 reviews	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene 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