Skeletal dysplasiaGene: CKAP2L
Listed in polydactyly-syndactyly-triphalangism SD gp. AR. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Syndactyly with microcephaly and MR (Filippi syndrome) 272440
Comment on list classification: Keeping red for now. Associated with Filippi syndrome in OMIM. Mainly a digital phenotype.
Created: 11 Dec 2019, 5:18 p.m. | Last Modified: 11 Dec 2019, 5:18 p.m.
Panel Version: 1.285
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.Ile191Asnfs∗6), 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.
Created: 20 Nov 2019, 1:35 p.m. | Last Modified: 20 Nov 2019, 1:35 p.m.
Panel Version: 1.219
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CKAP2L; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Gene: ckap2l has been classified as Red List (Low Evidence).
Added phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 for gene: CKAP2L
gene: CKAP2L was added gene: CKAP2L was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: CKAP2L was set to