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Fetal anomalies

Gene: MYBPC2

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Hydrops
  • Hygroma
  • Fetal akinesia
  • Multiple pterygium
OMIM
160793
Clinvar variants
Variants in MYBPC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2022, 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).

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYBPC2 was added gene: MYBPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC2 were set to 32732226 Phenotypes for gene: MYBPC2 were set to Hydrops; Hygroma; Fetal akinesia; Multiple pterygium