Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: EFNA4
EFNA4 (ephrin A4)
EnsemblGeneIds (GRCh38): ENSG00000243364
EnsemblGeneIds (GRCh37): ENSG00000243364
OMIM: 601380, Gene2Phenotype
EFNA4 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000243364
EnsemblGeneIds (GRCh37): ENSG00000243364
OMIM: 601380, Gene2Phenotype
EFNA4 is in 1 panel
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
3 cases with variants and non-syndromic coronal synostosis. All variants were inherited from a clinically unaffected parent and are in gnomAD - too common to be highly penetrant ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Eleanor Williams (Genomics England Curator)
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: EFNA4; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Andrew Wilkie (University of Oxford)
Significance of variants in Merrill 2006 paper uncertain because they are also listed in Exome Aggregation Consortium datasetCreated: 14 Sep 2015, 12:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Expert list
- OMIM
- 601380
- Clinvar variants
- Variants in EFNA4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
5 Mar 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to EFNA4.
1 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jul 2015, Gel status: 0
Added New Source
Eik Haraldsdottir (Genomics England)EFNA4 was added to Craniosynostosis syndromespanel. Sources: Expert list