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Skeletal dysplasia

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 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Acromesomelic dysplasia
Tags
for-review
OMIM
601591
Clinvar variants
Variants in PRKG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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