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| Skeletal dysplasia v1.285 | CKAP2L | Eleanor Williams Classified gene: CKAP2L as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.285 | CKAP2L | Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Filippi syndrome in OMIM. Mainly a digital phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.285 | CKAP2L | Eleanor Williams Gene: ckap2l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.219 | CKAP2L |
Eleanor Williams commented on gene: CKAP2L: Associated with Filippi syndrome #272440 (AR) in OMIM. Mainly a digital phenotype. PMID: 25439729 - Hussain et al 2014 - performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two children with Filippi syndrome and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfsā6), in CKAP2L which segregated with the disease in the family. They then sequenced CKAP2L in eight additional Filippi-syndrome-affected families (one from Italy, one from Poland, one from Turkey, and five from the UK) and identified five additional mutations in four of the further eight families affected by Filippi syndrome. Sufficient cases reported, but need to assess whether the phenotype is appropriate for the skeletal dysplasia panel. It is green on the Limb disorders panel. |
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| Skeletal dysplasia v1.153 | CKAP2L | Eleanor Williams Added phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 for gene: CKAP2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | CKAP2L | Tracy Lester reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Syndactyly with microcephaly and MR (Filippi syndrome) 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | CKAP2L | Eleanor Williams reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | CKAP2L |
Eleanor Williams gene: CKAP2L was added gene: CKAP2L was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: CKAP2L was set to |
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