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  2. Heterotaxy
  3. CRELD1
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Heterotaxy

Gene: CRELD1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Sources: Expert list
Created: 6 May 2020, 10:38 a.m. | Last Modified: 1 Jun 2020, 8:41 a.m.
Panel Version: 0.88

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome 606217

Publications

Created: 6 May 2020, 10:38 a.m.
Last Modified: 1 Jun 2020, 8:41 a.m.
Panel version: 0.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
OMIM
607170
Clinvar variants
Variants in CRELD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: creld1 has been classified as Amber List (Moderate Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: creld1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: creld1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRELD1 was added gene: CRELD1 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRELD1 were set to 22740159 Phenotypes for gene: CRELD1 were set to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Review for gene: CRELD1 was set to GREEN