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Fetal anomalies

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

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID 29215649 Lee et al 2018 - Cohort of 309 individuals with craniosynostosis tested with a 20-gene panel. Report 1 individual with unicoronal CS with a likely pathogenic EFNA4 variant.

PMID 29168297 Clarke et al 2018 - Study enrolled 397 probands with single suture CS. Report one maternally inherited EFNA4 VUS NM_005227.2:c.550C>T; p.(Leu184Phe) with metopic CS, x1 het in gnomad (v2), variant predicted to escape NMD, not reported in ClinVar/Decipher.

PMID 16540516 Merrill et al 2006 - Tested 81 patients with non-syndromic coronal CS. 3 heterozygous EFNA4 variants detected - x2 missense variants:
- c.178C>T p.H60Y -- 361 hets gnomad
- c.349 C>A p.P117T - 337 hets
- novel frameshift delin 471_472delCCinsA.

All 3 variants inherited from unaffected parent. Functional studies on fibroblast cells from the proband with the frameshift delin variant demonstrated an alternatively spliced minor isoform of EFNA4.
Sources: Literature
Created: 14 Feb 2022, 5:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniosynostosis
OMIM
601380
Clinvar variants
Variants in EFNA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: EFNA4 was added gene: EFNA4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EFNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516 Phenotypes for gene: EFNA4 were set to Craniosynostosis Review for gene: EFNA4 was set to AMBER