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  3. GJA4
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Fetal anomalies

Gene: GJA4

Red List (low evidence)
GJA4 (gap junction protein alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000187513
EnsemblGeneIds (GRCh37): ENSG00000187513
OMIM: 121012, Gene2Phenotype
GJA4 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

single case report. Gene otherwise associated with somatic variants in various vascular malformations
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thickened nuchal skin fold, HP:0000474

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Thickened nuchal skin fold, HP:0000474
OMIM
121012
Clinvar variants
Variants in GJA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: GJA4 was added gene: GJA4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: GJA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJA4 were set to 41416265 Phenotypes for gene: GJA4 were set to Thickened nuchal skin fold, HP:0000474