Limb disorders
Gene: CKAP2LComment on list classification: Plausible disease causing variants in > 3 families.Created: 17 Oct 2018, 10:01 p.m.
CKAP2L is associated with Filippi syndrome in OMIM and FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION in Gene2Phenotype (confirmed). Features of Filippi syndrome include syndactyly and clinodactyly.
OMIM reports that in affected individuals from 5 families with Filippi syndrome, Hussain et al. (2014)(PMID: 25439729) identified homozygosity or compound heterozygosity for truncating mutations in the CKAP2L gene that segregated with disease. Members of all 5 families showed syndactyly of hands and/or feet.Created: 17 Oct 2018, 9:55 p.m.
Eleanor Williams: CKAP2L is associated with Fili
Gene: ckap2l has been classified as Green List (High Evidence).
Phenotypes for gene: CKAP2L were changed from Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Phenotypes for gene: CKAP2L were changed from Polydactyly to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Publications for gene: CKAP2L were set to
Mode of inheritance for gene: CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ckap2l has been classified as Green List (High Evidence).
CKAP2L was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
CKAP2L was created by Ellen McDonagh