This Panel is marked as Internal
Isomerism and laterality 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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Atrioventricular septal defect, partial, with heterotaxy syndrome, 2, 606217
- Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
- Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2
- 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
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Isomerism and laterality disorderspanel. Source: UKGTN
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Isomerism and laterality disorderspanel. Source: Literature
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CRELD1 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CRELD1 was created by ellenmcdonagh