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Skeletal dysplasia

Gene: PRKG2

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

3 reviews

Eleanor Williams (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 6 Mar 2022, 5:41 p.m. | Last Modified: 6 Mar 2022, 5:41 p.m.
Panel Version: 2.176
Created: 6 Mar 2022, 5:41 p.m.
Last Modified: 6 Mar 2022, 5:41 p.m.
Panel version: 2.176

Alistair Pagnamenta (University of Oxford)

Green List (high evidence)

We recently reported details of 4 individuals from two independent families with homozygous frameshift/stop-gains in this gene segregating with a variable skeletal condition comprising spondylometaphyseal/acromesomelic dysplasia (PMID: 34782440). This helps to confirm an earlier report of this gene-disease association in two small families (PMID: 33106379). In addition to the rodent and bovine models, there is also a dog model for this genetic condition now (PMID: 34680883).
Created: 17 Nov 2021, 9:40 a.m. | Last Modified: 17 Nov 2021, 9:40 a.m.
Panel Version: 2.154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spondylometaphyseal; acromesomelic dysplasia

Publications

Created: 17 Nov 2021, 9:40 a.m.
Last Modified: 17 Nov 2021, 9:40 a.m.
Panel version: 2.154

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Added relevant phenotypes now listed in OMIM (MIM# 619636 and MIM# 619638)
Created: 4 Jan 2022, 12:15 p.m. | Last Modified: 4 Jan 2022, 12:15 p.m.
Panel Version: 2.163
Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review tag). Two unrelated cases exhibiting a consistent phenotype, supported by functional characterisation of harboured variants and concordant animal models.
Created: 2 Nov 2020, 1:26 p.m. | Last Modified: 2 Nov 2020, 1:26 p.m.
Panel Version: 2.26
- PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones.

Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature
Created: 2 Nov 2020, 1:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia

Publications

Created: 2 Nov 2020, 1:13 p.m.

Panel version: 2.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

6 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_NHS_review was removed from gene: PRKG2.

6 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: PRKG2.

6 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PRKG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PRKG2 were changed from acromesomelic dysplasia, MONDO:0019696; spondylometaphyseal dysplasia, MONDO:0016763 to Acromesomelic dysplasia 4, OMIM:619636; Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638

14 Dec 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: PRKG2.

23 Nov 2021, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to acromesomelic dysplasia, MONDO:0019696; spondylometaphyseal dysplasia, MONDO:0016763

23 Nov 2021, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PRKG2 were set to 33106379

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prkg2 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 1

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: PRKG2. Tag for-review tag was added to gene: PRKG2.

2 Nov 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PRKG2 was added gene: PRKG2 was added to Skeletal dysplasia. Sources: Literature watchlist tags were added to gene: PRKG2. Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKG2 were set to 33106379 Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia Review for gene: PRKG2 was set to AMBER