Arthrogryposis

Gene: MYH7

Red List (low evidence)

I cannot find evidence for association between MYH7 and arthrogryposis. Cervical contractures described in Laing distal myopathy are the closest.

Created: 31 Mar 2020, 5:26 a.m. | Last Modified: 31 Mar 2020, 5:26 a.m.

Panel Version: 0.31

Phenotypes
Laing distal myopathy, MIM# 160500

Publications

• 27519903

Green List (high evidence)

Reduced penetrance reported

mostly autosomal dominant. Compound heterozygosity for a truncating/LoF variant and a missense can lead to extremely severe presentation.

Missense proposed to be dominant negative

Special MYH7 curation guidelines in PMID 29300372

Created: 29 Mar 2020, 8:37 p.m. | Last Modified: 29 Mar 2020, 8:37 p.m.

Panel Version: 0.25

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1S 613426; Cardiomyopathy, hypertrophic, 1 192600; Laing distal myopathy 160500; Left ventricular noncompaction 5 613426; Myopathy, myosin storage, autosomal dominant 608358; Myopathy, myosin storage, autosomal recessive 255160; Scapuloperoneal syndrome, myopathic type 181430

Publications

• PMID 29300372
• 30924982
• 24714796
• 30623132

Mode of pathogenicity
Other