Clefting
Gene: CKAP2L
CKAP2L (cytoskeleton associated protein 2 like)
EnsemblGeneIds (GRCh38): ENSG00000169607
EnsemblGeneIds (GRCh37): ENSG00000169607
OMIM: 616174, Gene2Phenotype
CKAP2L is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000169607
EnsemblGeneIds (GRCh37): ENSG00000169607
OMIM: 616174, Gene2Phenotype
CKAP2L is in 7 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Clefting not a key feature, only found in one paperCreated: 31 May 2017, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Filippi syndrome, 272440
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Filippi syndrome, 272440
- OMIM
- 616174
- Clinvar variants
- Variants in CKAP2L
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for CKAP2L were set to 15365457;12416644
31 May 2017, Gel status: 1
Upload gene information
Louise Daugherty (Genomics England Curator)CKAP2L was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
31 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)CKAP2L was created by LouiseD
31 May 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)CKAP2L was added to Cleftingpanel. Sources: Expert list