Severe microcephaly

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

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Recognised on G2P. Mutations identified in at least five families
Created: 12 Jan 2017, 12:34 p.m.

Rebecca Foulger (Genomics England curator)

Andrew Jackson (Professor of Human Genetics) agrees that it is reasonable to include CKAP2L (the Filippi gene) on this panel.
Created: 3 Jan 2017, 10:17 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
  • Filippi syndrome, 272440
OMIM
616174
Clinvar variants
Variants in CKAP2L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CKAP2L was created by rfoulger

3 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CKAP2L was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other