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BabyScreen+ newborn screening

Gene: BVES

Red List (low evidence)

BVES (blood vessel epicardial substance)
EnsemblGeneIds (GRCh38): ENSG00000112276
EnsemblGeneIds (GRCh37): ENSG00000112276
OMIM: 604577, Gene2Phenotype
BVES is in 5 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
OMIM
604577
Clinvar variants
Variants in BVES
Penetrance
None
Panels with this gene

History Filter Activity

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BVES was added gene: BVES was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BVES were set to Congenital heart disease