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  3. CKAP2L
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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 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

PMID: 25439729
- 11 patients, 7 have OFCs <= -3SD
Sources: Literature
Created: 2 Sep 2020, 6:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Filippi syndrome (MIM#272440)

Publications

Created: 2 Sep 2020, 6:17 a.m.

Panel version: 0.291

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Filippi syndrome (MIM#272440)
OMIM
616174
Clinvar variants
Variants in CKAP2L
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, 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).

2 Sep 2020, 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).

2 Sep 2020, 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).

2 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CKAP2L was added gene: CKAP2L was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CKAP2L were set to 29473684; 25439729 Phenotypes for gene: CKAP2L were set to Filippi syndrome (MIM#272440) Penetrance for gene: CKAP2L were set to unknown Review for gene: CKAP2L was set to GREEN