Hydrocephalus
Gene: ERFEnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 7 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 2 May 2024, 10:48 a.m. | Last Modified: 2 May 2024, 10:48 a.m.
Panel Version: 4.6
Eleanor Williams (Genomics England Curator)
Added the Q2_21_rating tag so that it is clear that this gene is being assessed for a change of ratingCreated: 6 Oct 2022, 1:33 p.m. | Last Modified: 6 Oct 2022, 1:33 p.m.
Panel Version: 2.132
Sarah Leigh (Genomics England Curator)
As the recommendation for ERF is for demotion from green to red, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 5:43 p.m. | Last Modified: 15 Mar 2022, 5:43 p.m.
Panel Version: 2.127
Zornitza Stark (Australian Genomics)
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)
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 GreenCreated: 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)
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
-
- Expert Review Red
- NHS GMS
- Literature
- Phenotypes
-
- Craniosynostosis 4, OMIM:600775
- OMIM
- 611888
- Clinvar variants
- Variants in ERF
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: ERF.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to ERF. Rating Changed from Green List (high evidence) to Red List (low evidence)
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: ERF. Tag Q2_21_expert_review was removed from gene: ERF.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: ERF.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ERF.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: ERF.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ERF.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Helen Brittain (Genomics England Curator)ERF was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)ERF was added to Hydrocephaluspanel. Sources: Literature