Craniosynostosis
Gene: ERF

ERF (ETS2 repressor factor)
EnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 unrelated families reported. Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.
Created: 7 Oct 2020, 3:55 a.m. | Last Modified: 7 Oct 2020, 3:55 a.m.

Panel Version: 0.153

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4, MIM# 600775

Publications

Created: 7 Oct 2020, 3:55 a.m.
Last Modified: 7 Oct 2020, 3:55 a.m.
Panel version: 0.153

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniosynostosis 4, MIM# 600775

OMIM

611888

Clinvar variants

Variants in ERF

Penetrance

None

Publications

Panels with this gene