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Limb disorders

Gene: CKAP2L

Green List (high evidence)

CKAP2L (cytoskeleton associated protein 2 like)
EnsemblGeneIds (GRCh38): ENSG00000169607
EnsemblGeneIds (GRCh37): ENSG00000169607
OMIM: 616174, Gene2Phenotype
CKAP2L is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Filippi syndrome 272440
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
OMIM
616174
Clinvar variants
Variants in CKAP2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: CKAP2L is associated with Fili

18 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ckap2l has been classified as Green List (High Evidence).

17 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

17 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CKAP2L were changed from Polydactyly to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION

17 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CKAP2L were set to

17 Oct 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ckap2l has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CKAP2L was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CKAP2L was created by Ellen McDonagh