Ciliopathies
Gene: CRELD1

CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

No indication in OMIM that this variant is involved in ciliary function or mutation results in a ciliary phenotype.

PMID: 22740159 - 3 heterozygous patients with missense mutations with heterotaxy syndrome
Created: 6 May 2020, 2:12 a.m. | Last Modified: 6 May 2020, 2:12 a.m.

Panel Version: 0.103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Atrioventricular septal defect, susceptibility to, 2} 606217; Atrioventricular septal defect, partial, with heterotaxy syndrome 606217

Publications

PMID: 22740159

Created: 6 May 2020, 2:12 a.m.
Last Modified: 6 May 2020, 2:12 a.m.
Panel version: 0.103

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Atrioventricular septal defect, partial, with heterotaxy syndrome 606217

OMIM

607170

Clinvar variants

Variants in CRELD1

Penetrance

None

Publications

22740159

Panels with this gene