Craniosynostosis

Gene: EFNA4

Red List (low evidence)

EFNA4 (ephrin A4)
EnsemblGeneIds (GRCh38): ENSG00000243364
EnsemblGeneIds (GRCh37): ENSG00000243364
OMIM: 601380, Gene2Phenotype
EFNA4 is in 1 panel

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

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 Wilkie
Created: 5 Mar 2019, 11:33 a.m.

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: EFNA4; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Significance of variants in Merrill 2006 paper uncertain because they are also listed in Exome Aggregation Consortium dataset
Created: 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