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Prepair 1000+

Gene: CKAP2L

Green List (high evidence)
CKAP2L (cytoskeleton associated protein 2 like)
EnsemblGeneIds (GRCh38): ENSG00000169607
EnsemblGeneIds (GRCh37): ENSG00000169607
OMIM: 616174, Gene2Phenotype
CKAP2L is in 10 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia.
7 families reported.

PMID: 29473684 - 1x proband with head circumference -3SD

PMID: 25439729 - 11 patients, 7 have OFCs <= -3SD
Created: 11 Dec 2024, 2:02 a.m. | Last Modified: 11 Dec 2024, 2:02 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Filippi syndrome MIM#272440

Publications

Created: 11 Dec 2024, 2:02 a.m.
Last Modified: 11 Dec 2024, 2:02 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Filippi syndrome, MIM#272440
OMIM
616174
Clinvar variants
Variants in CKAP2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CKAP2L were changed from Filippi syndrome, 272440 (3) to Filippi syndrome, MIM#272440

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CKAP2L were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Filippi syndrome, 272440 (3) for gene: CKAP2L

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CKAP2L was added gene: CKAP2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)