Skeletal dysplasia

Gene: CKAP2L

Green List (high evidence)

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

Phenotypes
Syndactyly with microcephaly and MR (Filippi syndrome) 272440

I don't know

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.