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| Skeletal dysplasia v2.184 | PRKG2 | Eleanor Williams Tag Q4_21_NHS_review was removed from gene: PRKG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.180 | PRKG2 | Eleanor Williams Tag for-review was removed from gene: PRKG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | PRKG2 | Eleanor Williams commented on gene: PRKG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | PRKG2 |
Eleanor Williams Source Expert Review Green was added to PRKG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.163 | PRKG2 | Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotypes now listed in OMIM (MIM# 619636 and MIM# 619638) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.163 | PRKG2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.159 | PRKG2 | Eleanor Williams Tag Q4_21_NHS_review tag was added to gene: PRKG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.156 | PRKG2 | Eleanor Williams Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to acromesomelic dysplasia, MONDO:0019696; spondylometaphyseal dysplasia, MONDO:0016763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.155 | PRKG2 | Eleanor Williams Publications for gene: PRKG2 were set to 33106379 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.154 | PRKG2 | Alistair Pagnamenta reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34782440, 33106379, 34680883; Phenotypes: spondylometaphyseal, acromesomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.26 | PRKG2 | Arina Puzriakova Classified gene: PRKG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.26 | PRKG2 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.26 | PRKG2 | Arina Puzriakova Gene: prkg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.25 | PRKG2 |
Arina Puzriakova Tag watchlist was removed from gene: PRKG2. Tag for-review tag was added to gene: PRKG2. |
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| Skeletal dysplasia v2.25 | PRKG2 | Arina Puzriakova edited their review of gene: PRKG2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.25 | PRKG2 |
Arina Puzriakova 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 Added comment: - 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 |
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