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Limb disorders v0.359 CCND2 Eleanor Williams Added comment: Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of function
Limb disorders v0.359 CCND2 Eleanor Williams Mode of pathogenicity for gene: CCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Limb disorders v0.247 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.245 CCND2 Eleanor Williams Marked gene: CCND2 as ready
Limb disorders v0.245 CCND2 Eleanor Williams Added comment: Comment when marking as ready: Rated green based on sufficient evidence.
Limb disorders v0.245 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Limb disorders v0.245 CCND2 Eleanor Williams Publications for gene: CCND2 were set to
Limb disorders v0.244 CCND2 Eleanor Williams Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Limb disorders v0.243 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.243 CCND2 Eleanor Williams Classified gene: CCND2 as Green List (high evidence)
Limb disorders v0.243 CCND2 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene.
Limb disorders v0.243 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Limb disorders v0.242 CCND2 Eleanor Williams commented on gene: CCND2
Limb disorders CCND2 Ellen McDonagh Added gene to panel