Skeletal dysplasiaGene: PRKG2
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).
Created: 2 Nov 2020, 1:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: prkg2 has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: PRKG2. Tag for-review tag was added to gene: PRKG2.
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