Skeletal dysplasia
Gene: MYH3
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
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
Tag Q3_22_rating was removed from gene: MYH3.
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)
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
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
Gene: myh3 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: MYH3.
Publications for gene: MYH3 were set to 35169139
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