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Skeletal dysplasia v4.16 | PKDCC | Arina Puzriakova Phenotypes for gene: PKDCC were changed from Rhizomelia; dysmorphism to Rhizomelic limb shortening with dysmorphic features, OMIM:618821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v4.2 | PKDCC | Eleanor Williams Classified gene: PKDCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v4.2 | PKDCC | Eleanor Williams Added comment: Comment on list classification: Further expert review from Alistair Pagnamenta supports the green rating of this gene. No change in rating needed as is green already. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v4.2 | PKDCC | Eleanor Williams Gene: pkdcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v3.11 | PKDCC | Alistair Pagnamenta reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14324; Phenotypes: rhizomelia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.176 | PKDCC | Eleanor Williams Tag for-review was removed from gene: PKDCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.176 | PKDCC | Eleanor Williams commented on gene: PKDCC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.175 | PKDCC |
Eleanor Williams Source Expert Review Green was added to PKDCC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Skeletal dysplasia v2.81 | PKDCC | Ivone Leong commented on gene: PKDCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.81 | PKDCC | Ivone Leong Tag for-review tag was added to gene: PKDCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.80 | PKDCC | Michael Oldridge reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30478137; Phenotypes: rhizomelic limb shortening, facial dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.53 | PKDCC | Eleanor Williams Classified gene: PKDCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.53 | PKDCC | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber. 2 cases plus mouse knockout, with a similar but not exactly the same phenotype to the cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.53 | PKDCC | Eleanor Williams Gene: pkdcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.52 | PKDCC | Eleanor Williams reviewed gene: PKDCC: Rating: AMBER; Mode of pathogenicity: None; Publications: 30478137, 19097194; Phenotypes: Rhizomelic limb shortening with dysmorphic features OMIM:618821, rhizomelic limb shortening with dysmorphic features MONDO:0032935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v2.7 | PKDCC |
Zornitza Stark gene: PKDCC was added gene: PKDCC was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 30478137; 19097194 Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism Review for gene: PKDCC was set to AMBER Added comment: Two unrelated consanguineous families reported with different homozygous variants Pre-existing mouse model has similar phenotype Sources: Literature |