1. Panels
  2. Fetal anomalies
  3. PRKG2
Genes in panel
Prev Next

Fetal anomalies

Gene: PRKG2

Amber List (moderate evidence)
PRKG2 (protein kinase, cGMP-dependent, type II)
EnsemblGeneIds (GRCh38): ENSG00000138669
EnsemblGeneIds (GRCh37): ENSG00000138669
OMIM: 601591, Gene2Phenotype
PRKG2 is in 3 panels

2 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

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Homozygous loss-of-function PRKG2 variants identified in two probands with severe short stature due to acromesomelic limb shortening (33106379). Homozygous loss-of-function variants in 3 brothers, plus an additional unrelated proband, with skeletal dysplasias (34782440). 5 further cases in 4 families (36504352; 37789084; 38072398). Biallelic PRKG2 variants also associated with dwarfism in other species (34680883). Sufficient evidence for gene-disease association but unclear if phenotype is detectable prenatally. Growth parameters normal at birth in reported cases.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Pagnamenta type, MIM#619638; Acromesomelic dysplasia 4, MIM#619636

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Acromesomelic dysplasia 4, OMIM:619636
  • Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
OMIM
601591
Clinvar variants
Variants in PRKG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PRKG2 was added gene: PRKG2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKG2 were set to 33106379; 34680883; 34782440 Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia 4, OMIM:619636; Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638