DDG2P
Gene: CRELD1

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

3 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Created: 24 Aug 2024, 1:29 p.m. | Last Modified: 24 Aug 2024, 1:29 p.m.

Panel Version: 4.8

Publications

37947183

Created: 24 Aug 2024, 1:29 p.m.
Last Modified: 24 Aug 2024, 1:29 p.m.
Panel version: 4.8

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related atrioventricular septal defect susceptibility are limited, monoallelic_autosomal and undetermined (PMIDs: 12632326, 21080147, 22740159). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01141. The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related neurodevelopmental disorder with hypotonia and seizures are moderate, biallelic_autosomal and undetermined (PMID:37947183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03532.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12632326;22740159;21080147).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:606217.0; MONDO:0958329; CRELD1-related atrioventricular septal defect susceptibility; CRELD1-related neurodevelopmental disorder with hypotonia and seizures; MONDO:0011650; OMIM:620771.0; CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771; CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771
CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217

OMIM

607170

Clinvar variants

Variants in CRELD1

Penetrance

None

Publications

Panels with this gene