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
Eleanor Williams Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene.