Primary ciliary disorders
Gene: CRELD1
CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:32 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 607170
- Clinvar variants
- Variants in CRELD1
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Intellectual disability
- Familial non syndromic congenital heart disease
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory