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  3. EFNA4
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Craniosynostosis

Gene: EFNA4

Amber List (moderate evidence)
EFNA4 (ephrin A4)
EnsemblGeneIds (GRCh38): ENSG00000243364
EnsemblGeneIds (GRCh37): ENSG00000243364
OMIM: 601380, Gene2Phenotype
EFNA4 is in 3 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

Two unrelated individuals from two craniosynostosis cohorts with variants in EFNA4. 29168297 also reports variants in 4 craniosynostosis cases but acknowledges that causality is not proven.
Created: 3 Jun 2020, 12:03 p.m. | Last Modified: 3 Jun 2020, 12:03 p.m.
Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coronal and metopic craniosynostosis

Publications

Created: 3 Jun 2020, 12:03 p.m.
Last Modified: 3 Jun 2020, 12:03 p.m.
Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Coronal and metopic craniosynostosis
OMIM
601380
Clinvar variants
Variants in EFNA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFNA4 were changed from to Coronal and metopic craniosynostosis

30 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EFNA4 were set to

30 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: efna4 has been classified as Amber List (Moderate Evidence).

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: efna4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFNA4 was added gene: EFNA4 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EFNA4 was set to Unknown