Skeletal dysplasia
Gene: MYH3EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 6 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:32 p.m.
Panel Version: 3.5
Comment on list classification: Promoting from grey to amber but with a green recommendation following GMS review.Created: 16 Sep 2022, 2:19 p.m. | Last Modified: 16 Sep 2022, 2:19 p.m.
Panel Version: 2.215
Associated with Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A #178110 (AD) and
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B #618469 (AR) in OMIM.
Several publications describe patients with both monoallelic and biallelic variants in MYH3 and a phenotype that includes abnormal vertebrae and scoliosis.
Monoallelic - PMID: 25957469, PMID: 27381093, PMID: 28205584, PMID: 29314551, PMID: 29805041, PMID: 35169139
Biallelic - PMID: 29805041, PMID: 35169139Created: 16 Sep 2022, 2:12 p.m. | Last Modified: 16 Sep 2022, 2:12 p.m.
Panel Version: 2.213
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
17 individuals with variable vertebral and spine anomalies, as well as short stature reported in 35169139. Pathogenic variants in MYH3 cause not only Arthrogryposis.
Sources: LiteratureCreated: 10 Sep 2022, 7:54 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- OMIM
- 160720
- Clinvar variants
- Variants in MYH3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating was removed from gene: MYH3.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to MYH3. Source NHS GMS was added to MYH3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MYH3 were changed from Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 to 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MYH3 were changed from to Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: myh3 has been classified as Amber List (Moderate Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating tag was added to gene: MYH3.
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MYH3 were set to 35169139
Created, Added New Source, Set mode of inheritance, Set publications
Dmitrijs Rots (Children's Clinical University Hospital)gene: MYH3 was added gene: MYH3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MYH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH3 were set to 35169139 Review for gene: MYH3 was set to GREEN