Skeletal dysplasia
Gene: CKAP2L

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Created: 15 Nov 2021, 7:58 a.m. | Last Modified: 15 Nov 2021, 7:58 a.m.

Panel Version: 0.9756

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Filippi syndrome, MIM# 272440

Publications

Created: 15 Nov 2021, 7:58 a.m.
Last Modified: 15 Nov 2021, 7:58 a.m.
Panel version: Imported from Mendeliome panel version 0.9756

Details

Sources

Expert Review Green
NHS GMS
Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Syndactyly with microcephaly and MR (Filippi syndrome) 272440

OMIM

616174

Clinvar variants

Variants in CKAP2L

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: CKAP2L was set to Phenotypes for gene: CKAP2L were set to Syndactyly with microcephaly and MR (Filippi syndrome) 272440

Skeletal dysplasia Gene: CKAP2L