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Mendeliome

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

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

Details

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

History Filter Activity

15 Nov 2021, 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).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CKAP2L were set to

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CKAP2L was added gene: CKAP2L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CKAP2L was set to Unknown