MYH3

myosin heavy chain 3
OMIM: 160720, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green MYH3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert UKGTN Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, distal, type 2A, 193700 Arthrogryposis, distal, type 2B, 601680 Arthrogryposis Multiplex Congenita
Green MYH3 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Tags Q2_23_MOI Q2_23_NHS_review
Green MYH3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 2B DISTAL ARTHROGRYPOSIS TYPE 2A
Green MYH3 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green MYH3 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110