MYH3

myosin heavy chain 3
OMIM: 160720, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MYH3 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD) Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD) Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD) Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR) Tags Q3_25_MOI
Green MYH3 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Green MYH3 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, MONDO:0008338
Green MYH3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD) Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD) Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD) Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR) Tags Q3_25_MOI
Green MYH3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 Recessive Spondylocarpotarsal Synostosis Syndrome
Red MYH3 in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO