Rare multisystem ciliopathy disorders
Gene: CRELD1EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: heterotaxy not included on this panelCreated: 23 Jan 2017, 4:26 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- ciliopathies
- OMIM
- 607170
- Clinvar variants
- Variants in CRELD1
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CRELD1 were set to ciliopathies
Created
Ellen McDonagh (Genomics England Curator)CRELD1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list