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  3. MYH3
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Fetal anomalies

Gene: MYH3

Green List (high evidence)
MYH3 (myosin heavy chain 3)
EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Contractures are a key features.
Created: 17 Feb 2022, 4:16 a.m. | Last Modified: 17 Feb 2022, 4:16 a.m.
Panel Version: 0.3588

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 17 Feb 2022, 4:16 a.m.
Last Modified: 17 Feb 2022, 4:16 a.m.
Panel version: 0.3588

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

ID is not a key features of these syndromes
Created: 5 Dec 2019, 2:17 a.m. | Last Modified: 5 Dec 2019, 2:17 a.m.
Panel Version: 0.456

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 5 Dec 2019, 2:17 a.m.
Last Modified: 5 Dec 2019, 2:17 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.456

Details

Mode of Inheritance
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
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: myh3 has been classified as Green List (High Evidence).

17 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B to 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

17 Feb 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MYH3 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH3 was added gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B