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Fetal anomalies

Gene: GRK2

Amber List (moderate evidence)
GRK2 (G protein-coupled receptor kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000173020
EnsemblGeneIds (GRCh37): ENSG00000173020
OMIM: 109635, Gene2Phenotype
GRK2 is in 2 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

Louise Carr (North Thames Genomic Medicine Service)

Green List (high evidence)

only 1 paper , 2 cases but good functional analysis and would definitely present prenataly. (PMID: 38647386) report one case with a homozygous nonsense mutation in GRK2 (NM_001619.3, c.1420C>T, p.(Arg474Ter). A second paper report on three cases, two of which are affected siblings. This paper also includes strong functional work to study the impact of a GRK2 loss.
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
Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770

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
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
OMIM
109635
Clinvar variants
Variants in GRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: GRK2 was added gene: GRK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRK2 were set to 38647386; 33200460 Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770