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Fetal anomalies

Gene: GNA14

Amber List (moderate evidence)
GNA14 (G protein subunit alpha 14)
EnsemblGeneIds (GRCh38): ENSG00000156049
EnsemblGeneIds (GRCh37): ENSG00000156049
OMIM: 604397, Gene2Phenotype
GNA14 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

I don't know

Green on mosaic skin disorders. PMID 38917801 -WES and deep seq on 31 tissues with extra-axial cavernous hemangiomassomatic, missense variants in GNA14. PMID 27476652: GNA14 mutations as a cause of childhood vascular tumors. Most are benign infantile hemangiomas that typically regress by 5 years of age; other vascular tumors include congenital tufted angiomas (TAs), kaposiform hemangioendotheliomas (KHEs), and childhood lobular capillary hemangiomas (LCHs). Upregulation of MAPK pathway. No prenatal reports identified in literature.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital vascular tumours

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Congenital vascular tumours
Created: 11 Dec 2018, 9:05 a.m.
Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital vascular tumours.
Created: 8 Nov 2018, 4:53 p.m.
In the original PAGE file, listed as Mosaic for Congenital vascular tumours. In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital vascular tumours
Tags
mosaicism
OMIM
604397
Clinvar variants
Variants in GNA14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GNA14. Publications for gene: GNA14 were updated from to 38917801

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: GNA14.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GNA14 was added gene: GNA14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA14 were set to Congenital vascular tumours