Craniosynostosis

Gene: ERF

Green List (high evidence)

ERF (ETS2 repressor factor)
EnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Yes - well defined. Pre-screened with panel R99. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Craniosynostosis 4, 600775

Publications

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ERF; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ERF-related craniosynostosis ranges from Crouzon-like disorder to apparently non-syndromic single suture synostosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 10:10 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis 4, 600775
  • Craniosynostosis 4
OMIM
611888
Clinvar variants
Variants in ERF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ERF. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for ERF were set to 26097063; 23354439

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ERF was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

ERF was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene ERF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

ERF was added to Craniosynostosis syndromespanel. Sources: UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ERF was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen