Multiple pterygium syndrome_Fetal akinesia sequence
Gene: MYBPC2

MYBPC2 (myosin binding protein C, fast type)
EnsemblGeneIds (GRCh38): ENSG00000086967
EnsemblGeneIds (GRCh37): ENSG00000086967
OMIM: 160793, Gene2Phenotype
MYBPC2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Created: 11 Jun 2021, 8 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia; Hydrops; Hygroma; Multiple pterygium

Publications

32732226

Created: 11 Jun 2021, 8 a.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Fetal akinesia
Hydrops
Hygroma
Multiple pterygium

OMIM

160793

Clinvar variants

Variants in MYBPC2

Penetrance

None

Publications

32732226

Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc2 has been classified as Red List (Low Evidence).

11 Jun 2021, Gel status: 1

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