Hydrocephalus

Gene: ERF

Green List (high evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Hydrocephalus is not part of the phenotype.
Created: 7 Aug 2020, 11:13 a.m. | Last Modified: 7 Aug 2020, 11:13 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4, MIM# 600775

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Presents with variable craniosynostosis however, some cases have only manifested macrocephaly. Added as an appropriate phenotype after discussion with Dr. Louise Wilson, Consultant Clinical Geneticist.
Created: 30 May 2017, 8:16 a.m.

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

Phenotypes
Craniosynostosis 4 600775

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis 4, OMIM:600775
Tags
Q2_21_expert_review
OMIM
611888
Clinvar variants
Variants in ERF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: ERF.

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERF.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

30 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

ERF was created by helen.brittain

30 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

ERF was added to Hydrocephaluspanel. Sources: Literature