Arthrogryposis
Gene: MYBPC1

MYBPC1 (myosin binding protein C, slow type)
EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono allelic and bi-allelic variants are associated with arthrogryposis, supportive zebrafish model.
Created: 14 Jun 2021, 7:12 a.m. | Last Modified: 14 Jun 2021, 7:12 a.m.

Panel Version: 0.280

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915

Publications

Created: 14 Jun 2021, 7:12 a.m.
Last Modified: 14 Jun 2021, 7:12 a.m.
Panel version: 0.280

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arthrogryposis, distal, type 1B 614335
Lethal congenital contracture syndrome 4, MIM# 614915

OMIM

160794

Clinvar variants

Variants in MYBPC1

Penetrance

None

Publications

Panels with this gene