Hydrocephalus
Gene: ERFAdded 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
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
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
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
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
Tag Q2_21_rating was removed from gene: ERF. Tag Q2_21_expert_review was removed from gene: ERF.
Tag Q2_21_rating tag was added to gene: ERF.
Tag to_be_confirmed_NHSE tag was added to gene: ERF.
Tag Q2_21_expert_review tag was added to gene: ERF.
Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775
Source NHS GMS was added to ERF.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ERF was created by helen.brittain
ERF was added to Hydrocephaluspanel. Sources: Literature