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Skeletal dysplasia v1.156 | CDKN1C | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance to reflect expert reviewer's recommendation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.156 | CDKN1C | Eleanor Williams Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | CDKN1C | Eleanor Williams Added phenotypes IMAGE syndrome 614732 for gene: CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | CDKN1C | Tracy Lester reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IMAGE syndrome 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | CDKN1C | Eleanor Williams reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | CDKN1C |
Eleanor Williams Source NHS GMS was added to CDKN1C. Rating Changed from Green List (high evidence) to Green List (high evidence) |